LeHavreV1, France, Analysis, bibRecord, 000184

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.

Identifieur interne : 000184 ( France/Analysis ); précédent : 000183; suivant : 000185

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.

Auteurs : Magali Avila [France] ; David A. Dyment [Canada] ; J Rn V. Sagen [Norvège] ; Judith St-Onge [France] ; Ute Moog [Allemagne] ; Brian H Y. Chung [République populaire de Chine] ; Sahar Mansour [Royaume-Uni] ; Assunta Albanese ; Sixto Garcia [Espagne] ; David Ortiz Martin [Espagne] ; Ainhoa Abad Lopez [Espagne] ; Tor Claudi [Norvège] ; Rainer König [Allemagne] ; Susan M. White [Australie] ; Sarah L. Sawyer [Canada] ; Jon A. Bernstein [États-Unis] ; Leah Slattery [États-Unis] ; Rebekah K. Jobling [Canada] ; Grace Yoon [Canada] ; Cynthia J. Curry [États-Unis] ; Martine Le Merrer [France] ; Bernard Le Luyer [France] ; Delphine Héron [France] ; Michèle Mathieu-Dramard [France] ; Pierre Bitoun [France] ; Sylvie Odent [France] ; Jeanne Amiel [France] ; Paul Kuentz [France] ; Julien Thevenon [France] ; Martine Laville [France] ; Yves Reznik [France] ; Cédric Fagour [France] ; Marie-Laure Nunes [France] ; Dorothée Delesalle [France] ; Sylvie Manouvrier [France] ; Olivier Lascols [France] ; Frédéric Huet [France] ; Christine Binquet [France] ; Laurence Faivre [France] ; Jean-Baptiste Rivière [France] ; Corinne Vigouroux [France] ; P L Rasmus Nj Lstad [Norvège] ; A Micheil Innes [Canada] ; Christel Thauvin-Robinet [France]

Source :

Clinical genetics [ 1399-0004 ] ; 2015.

RBID : pubmed:26497935

Descripteurs français

Wicri :
- topic : Diabète.

English descriptors

mix :
- Diabetes, Insulin Resistance, PIK3R1 gene, SHORT syndrome, intrauterine growth restriction, lipoatrophy, short stature.

Abstract

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had 4 or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included IUGR < 10(th) percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.

Url:

https://hal-univ-rennes1.archives-ouvertes.fr/hal-01225503

DOI: 10.1111/cge.12688
PubMed: 26497935

Affiliations:

Links to Exploration step

pubmed:26497935

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.</title>
<author><name sortKey="Avila, Magali" sort="Avila, Magali" uniqKey="Avila M" first="Magali" last="Avila">Magali Avila</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Dyment, David A" sort="Dyment, David A" uniqKey="Dyment D" first="David A" last="Dyment">David A. Dyment</name>
<affiliation wicri:level="1"><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1</wicri:regionArea>
<wicri:noRegion>K1H 8L1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sagen, J Rn V" sort="Sagen, J Rn V" uniqKey="Sagen J" first="J Rn V" last="Sagen">J Rn V. Sagen</name>
<affiliation wicri:level="1"><nlm:affiliation>Hormone Laboratory, Haukeland University Hospital, N-5021, Bergen, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Hormone Laboratory, Haukeland University Hospital, N-5021, Bergen</wicri:regionArea>
<wicri:noRegion>Bergen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="St Onge, Judith" sort="St Onge, Judith" uniqKey="St Onge J" first="Judith" last="St-Onge">Judith St-Onge</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Heidelberg, Heidelberg</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Karlsruhe</region>
<settlement type="city">Heidelberg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H Y" last="Chung">Brian H Y. Chung</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Paediatrics and Adolescent Medicine, The University of Hong Kong- Shenzhen Hospital, 1, Haiyuan 1st Road, Futian District, Shenzhen, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Paediatrics and Adolescent Medicine, The University of Hong Kong- Shenzhen Hospital, 1, Haiyuan 1st Road, Futian District, Shenzhen</wicri:regionArea>
<placeName><settlement type="city">Shenzhen</settlement>
<region type="province">Guangdong</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation wicri:level="1"><nlm:affiliation>SW Thames Regional Genetics Service, St. George's Hospital Medical School, London, SW17 0RE, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>SW Thames Regional Genetics Service, St. George's Hospital Medical School, London, SW17 0RE</wicri:regionArea>
<wicri:noRegion>SW17 0RE</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Albanese, Assunta" sort="Albanese, Assunta" uniqKey="Albanese A" first="Assunta" last="Albanese">Assunta Albanese</name>
<affiliation><nlm:affiliation>Paediatric Endocrine Unit, St George's Hospital, Blackshaw Road, London, SW17 0QT.</nlm:affiliation>
<wicri:noCountry code="subField">SW17 0QT</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Garcia, Sixto" sort="Garcia, Sixto" uniqKey="Garcia S" first="Sixto" last="Garcia">Sixto Garcia</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Paseo Castellana, 261, E-28046, Madrid, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Paseo Castellana, 261, E-28046, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ortiz Martin, David" sort="Ortiz Martin, David" uniqKey="Ortiz Martin D" first="David" last="Ortiz Martin">David Ortiz Martin</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Ophthalmology, Hospital Central de la Cruz Roja San Jose y Santa Adela, Madrid, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Ophthalmology, Hospital Central de la Cruz Roja San Jose y Santa Adela, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lopez, Ainhoa Abad" sort="Lopez, Ainhoa Abad" uniqKey="Lopez A" first="Ainhoa Abad" last="Lopez">Ainhoa Abad Lopez</name>
<affiliation wicri:level="3"><nlm:affiliation>Puerta de Hierro, University Hospital, Manuel de Falla 1, Majadahonda, Madrid.</nlm:affiliation>
<country>Espagne</country>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
<wicri:orgArea>Puerta de Hierro, University Hospital, Manuel de Falla 1, Majadahonda</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Claudi, Tor" sort="Claudi, Tor" uniqKey="Claudi T" first="Tor" last="Claudi">Tor Claudi</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Nordlandssykehuset, N-8092, Bodø, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Medicine, Nordlandssykehuset, N-8092, Bodø</wicri:regionArea>
<wicri:noRegion>Bodø</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Konig, Rainer" sort="Konig, Rainer" uniqKey="Konig R" first="Rainer" last="König">Rainer König</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, University of Frankfurt, G-60325, Frankfurt, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Genetics, University of Frankfurt, G-60325, Frankfurt</wicri:regionArea>
<wicri:noRegion>60325, Frankfurt</wicri:noRegion>
<wicri:noRegion>60325, Frankfurt</wicri:noRegion>
<wicri:noRegion>Frankfurt</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M" last="White">Susan M. White</name>
<affiliation wicri:level="1"><nlm:affiliation>Victorian Clinical genetics Services, Murdoch Childrens Research institute, Parkville, VIC, 3052, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical genetics Services, Murdoch Childrens Research institute, Parkville, VIC, 3052</wicri:regionArea>
<wicri:noRegion>3052</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sawyer, Sarah L" sort="Sawyer, Sarah L" uniqKey="Sawyer S" first="Sarah L" last="Sawyer">Sarah L. Sawyer</name>
<affiliation wicri:level="1"><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1</wicri:regionArea>
<wicri:noRegion>K1H 8L1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bernstein, Jon A" sort="Bernstein, Jon A" uniqKey="Bernstein J" first="Jon A" last="Bernstein">Jon A. Bernstein</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Stanford University, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Slattery, Leah" sort="Slattery, Leah" uniqKey="Slattery L" first="Leah" last="Slattery">Leah Slattery</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Stanford University, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jobling, Rebekah K" sort="Jobling, Rebekah K" uniqKey="Jobling R" first="Rebekah K" last="Jobling">Rebekah K. Jobling</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON</wicri:regionArea>
<wicri:noRegion>ON</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON</wicri:regionArea>
<wicri:noRegion>ON</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J" last="Curry">Cynthia J. Curry</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, University of California, San Francisco, CA, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of California, San Francisco, CA</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<affiliation wicri:level="3"><nlm:affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Le Luyer, Bernard" sort="Le Luyer, Bernard" uniqKey="Le Luyer B" first="Bernard" last="Le Luyer">Bernard Le Luyer</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Pédiatrie, CH Le Havre, F-76083, Le Havre, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Pédiatrie, CH Le Havre, F-76083, Le Havre</wicri:regionArea>
<placeName><region type="region" nuts="2">Région Normandie</region>
<region type="old region" nuts="2">Haute-Normandie</region>
<settlement type="city">Le Havre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name>
<affiliation wicri:level="3"><nlm:affiliation>Département de Génétique et Centre de Référence "Déficiences intellectuelles de causes rares", La Pitié Salpêtrière, F-75651, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique et Centre de Référence "Déficiences intellectuelles de causes rares", La Pitié Salpêtrière, F-75651, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mathieu Dramard, Michele" sort="Mathieu Dramard, Michele" uniqKey="Mathieu Dramard M" first="Michèle" last="Mathieu-Dramard">Michèle Mathieu-Dramard</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Génétique clinique, CHU Amiens, F-80054, Amiens, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique clinique, CHU Amiens, F-80054, Amiens</wicri:regionArea>
<placeName><region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Picardie</region>
<settlement type="city">Amiens</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Pédiatrie, CHU Jean Verdier, F-93143, Bondy, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Pédiatrie, CHU Jean Verdier, F-93143, Bondy</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Bondy</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Génétique clinique, CHU Rennes, F-35203, Rennes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique clinique, CHU Rennes, F-35203, Rennes</wicri:regionArea>
<placeName><region type="region" nuts="2">Région Bretagne</region>
<settlement type="city">Rennes</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<affiliation wicri:level="3"><nlm:affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kuentz, Paul" sort="Kuentz, Paul" uniqKey="Kuentz P" first="Paul" last="Kuentz">Paul Kuentz</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Laville, Martine" sort="Laville, Martine" uniqKey="Laville M" first="Martine" last="Laville">Martine Laville</name>
<affiliation wicri:level="3"><nlm:affiliation>Département d'Endocrinologie, Diabétologie et Nutrition, Hospices Civils de Lyon, Centre Hospitalier Lyon-Sud, F-69530, Pierre-Bénite, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département d'Endocrinologie, Diabétologie et Nutrition, Hospices Civils de Lyon, Centre Hospitalier Lyon-Sud, F-69530, Pierre-Bénite</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Pierre-Bénite</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Reznik, Yves" sort="Reznik, Yves" uniqKey="Reznik Y" first="Yves" last="Reznik">Yves Reznik</name>
<affiliation wicri:level="3"><nlm:affiliation>Service d'Endocrinologie, Centre Hospitalier Universitaire Côte-de-Nacre, F-14033, Caen, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service d'Endocrinologie, Centre Hospitalier Universitaire Côte-de-Nacre, F-14033, Caen</wicri:regionArea>
<placeName><region type="region" nuts="2">Région Normandie</region>
<region type="old region" nuts="2">Basse-Normandie</region>
<settlement type="city">Caen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fagour, Cedric" sort="Fagour, Cedric" uniqKey="Fagour C" first="Cédric" last="Fagour">Cédric Fagour</name>
<affiliation wicri:level="3"><nlm:affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac</wicri:regionArea>
<placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region>
<region type="old region" nuts="2">Aquitaine</region>
<settlement type="city">Pessac</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nunes, Marie Laure" sort="Nunes, Marie Laure" uniqKey="Nunes M" first="Marie-Laure" last="Nunes">Marie-Laure Nunes</name>
<affiliation wicri:level="3"><nlm:affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac</wicri:regionArea>
<placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region>
<region type="old region" nuts="2">Aquitaine</region>
<settlement type="city">Pessac</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Delesalle, Dorothee" sort="Delesalle, Dorothee" uniqKey="Delesalle D" first="Dorothée" last="Delesalle">Dorothée Delesalle</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de pédiatrie, CH de Valencienne, Valencienne, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de pédiatrie, CH de Valencienne, Valencienne</wicri:regionArea>
<wicri:noRegion>Valencienne</wicri:noRegion>
<wicri:noRegion>Valencienne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Manouvrier, Sylvie" sort="Manouvrier, Sylvie" uniqKey="Manouvrier S" first="Sylvie" last="Manouvrier">Sylvie Manouvrier</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre de Référence CLAD NdF- Service de génétique clinique Guy Fontaine, CHRU de Lille- Hôpital Jeanne de Flandre, Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Référence CLAD NdF- Service de génétique clinique Guy Fontaine, CHRU de Lille- Hôpital Jeanne de Flandre, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lascols, Olivier" sort="Lascols, Olivier" uniqKey="Lascols O" first="Olivier" last="Lascols">Olivier Lascols</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre d'Investigation Clinique-Epidémiologique Clinique / essais cliniques du CHU de Dijon, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre d'Investigation Clinique-Epidémiologique Clinique / essais cliniques du CHU de Dijon, Dijon</wicri:regionArea>
<placeName><settlement type="city">Dijon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Vigouroux, Corinne" sort="Vigouroux, Corinne" uniqKey="Vigouroux C" first="Corinne" last="Vigouroux">Corinne Vigouroux</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nj Lstad, P L Rasmus" sort="Nj Lstad, P L Rasmus" uniqKey="Nj Lstad P" first="P L Rasmus" last="Nj Lstad">P L Rasmus Nj Lstad</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Haukeland, University Hospital, N-5021, Bergen, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Pediatrics, Haukeland, University Hospital, N-5021, Bergen</wicri:regionArea>
<wicri:noRegion>Bergen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Innes, A Micheil" sort="Innes, A Micheil" uniqKey="Innes A" first="A Micheil" last="Innes">A Micheil Innes</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1</wicri:regionArea>
<orgName type="university">Université de Calgary</orgName>
<placeName><settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2015">2015</date>
<idno type="RBID">pubmed:26497935</idno>
<idno type="pmid">26497935</idno>
<idno type="doi">10.1111/cge.12688</idno>
<idno type="wicri:Area/PubMed/Corpus">000064</idno>
<idno type="wicri:Area/PubMed/Curation">000064</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000064</idno>
<idno type="wicri:Area/Ncbi/Merge">000507</idno>
<idno type="wicri:Area/Ncbi/Curation">000507</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000507</idno>
<idno type="wicri:source">HAL</idno>
<idno type="RBID">Hal:hal-01225503</idno>
<idno type="url">https://hal-univ-rennes1.archives-ouvertes.fr/hal-01225503</idno>
<idno type="wicri:Area/Hal/Corpus">000061</idno>
<idno type="wicri:Area/Hal/Curation">000061</idno>
<idno type="wicri:Area/Hal/Checkpoint">000028</idno>
<idno type="wicri:doubleKey">0009-9163:2016:Avila M:clinical:reappraisal:of</idno>
<idno type="wicri:Area/Main/Merge">000192</idno>
<idno type="wicri:Area/Main/Curation">000194</idno>
<idno type="wicri:Area/Main/Exploration">000194</idno>
<idno type="wicri:Area/France/Extraction">000184</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.</title>
<author><name sortKey="Avila, Magali" sort="Avila, Magali" uniqKey="Avila M" first="Magali" last="Avila">Magali Avila</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Dyment, David A" sort="Dyment, David A" uniqKey="Dyment D" first="David A" last="Dyment">David A. Dyment</name>
<affiliation wicri:level="1"><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1</wicri:regionArea>
<wicri:noRegion>K1H 8L1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sagen, J Rn V" sort="Sagen, J Rn V" uniqKey="Sagen J" first="J Rn V" last="Sagen">J Rn V. Sagen</name>
<affiliation wicri:level="1"><nlm:affiliation>Hormone Laboratory, Haukeland University Hospital, N-5021, Bergen, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Hormone Laboratory, Haukeland University Hospital, N-5021, Bergen</wicri:regionArea>
<wicri:noRegion>Bergen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="St Onge, Judith" sort="St Onge, Judith" uniqKey="St Onge J" first="Judith" last="St-Onge">Judith St-Onge</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Heidelberg, Heidelberg</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Karlsruhe</region>
<settlement type="city">Heidelberg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H Y" last="Chung">Brian H Y. Chung</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Paediatrics and Adolescent Medicine, The University of Hong Kong- Shenzhen Hospital, 1, Haiyuan 1st Road, Futian District, Shenzhen, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Paediatrics and Adolescent Medicine, The University of Hong Kong- Shenzhen Hospital, 1, Haiyuan 1st Road, Futian District, Shenzhen</wicri:regionArea>
<placeName><settlement type="city">Shenzhen</settlement>
<region type="province">Guangdong</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation wicri:level="1"><nlm:affiliation>SW Thames Regional Genetics Service, St. George's Hospital Medical School, London, SW17 0RE, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>SW Thames Regional Genetics Service, St. George's Hospital Medical School, London, SW17 0RE</wicri:regionArea>
<wicri:noRegion>SW17 0RE</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Albanese, Assunta" sort="Albanese, Assunta" uniqKey="Albanese A" first="Assunta" last="Albanese">Assunta Albanese</name>
<affiliation><nlm:affiliation>Paediatric Endocrine Unit, St George's Hospital, Blackshaw Road, London, SW17 0QT.</nlm:affiliation>
<wicri:noCountry code="subField">SW17 0QT</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Garcia, Sixto" sort="Garcia, Sixto" uniqKey="Garcia S" first="Sixto" last="Garcia">Sixto Garcia</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Paseo Castellana, 261, E-28046, Madrid, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Paseo Castellana, 261, E-28046, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ortiz Martin, David" sort="Ortiz Martin, David" uniqKey="Ortiz Martin D" first="David" last="Ortiz Martin">David Ortiz Martin</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Ophthalmology, Hospital Central de la Cruz Roja San Jose y Santa Adela, Madrid, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Ophthalmology, Hospital Central de la Cruz Roja San Jose y Santa Adela, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lopez, Ainhoa Abad" sort="Lopez, Ainhoa Abad" uniqKey="Lopez A" first="Ainhoa Abad" last="Lopez">Ainhoa Abad Lopez</name>
<affiliation wicri:level="3"><nlm:affiliation>Puerta de Hierro, University Hospital, Manuel de Falla 1, Majadahonda, Madrid.</nlm:affiliation>
<country>Espagne</country>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
<wicri:orgArea>Puerta de Hierro, University Hospital, Manuel de Falla 1, Majadahonda</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Claudi, Tor" sort="Claudi, Tor" uniqKey="Claudi T" first="Tor" last="Claudi">Tor Claudi</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Nordlandssykehuset, N-8092, Bodø, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Medicine, Nordlandssykehuset, N-8092, Bodø</wicri:regionArea>
<wicri:noRegion>Bodø</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Konig, Rainer" sort="Konig, Rainer" uniqKey="Konig R" first="Rainer" last="König">Rainer König</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, University of Frankfurt, G-60325, Frankfurt, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Genetics, University of Frankfurt, G-60325, Frankfurt</wicri:regionArea>
<wicri:noRegion>60325, Frankfurt</wicri:noRegion>
<wicri:noRegion>60325, Frankfurt</wicri:noRegion>
<wicri:noRegion>Frankfurt</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M" last="White">Susan M. White</name>
<affiliation wicri:level="1"><nlm:affiliation>Victorian Clinical genetics Services, Murdoch Childrens Research institute, Parkville, VIC, 3052, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical genetics Services, Murdoch Childrens Research institute, Parkville, VIC, 3052</wicri:regionArea>
<wicri:noRegion>3052</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sawyer, Sarah L" sort="Sawyer, Sarah L" uniqKey="Sawyer S" first="Sarah L" last="Sawyer">Sarah L. Sawyer</name>
<affiliation wicri:level="1"><nlm:affiliation>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1</wicri:regionArea>
<wicri:noRegion>K1H 8L1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bernstein, Jon A" sort="Bernstein, Jon A" uniqKey="Bernstein J" first="Jon A" last="Bernstein">Jon A. Bernstein</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Stanford University, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Slattery, Leah" sort="Slattery, Leah" uniqKey="Slattery L" first="Leah" last="Slattery">Leah Slattery</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Stanford University, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jobling, Rebekah K" sort="Jobling, Rebekah K" uniqKey="Jobling R" first="Rebekah K" last="Jobling">Rebekah K. Jobling</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON</wicri:regionArea>
<wicri:noRegion>ON</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Torronto, ON</wicri:regionArea>
<wicri:noRegion>ON</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J" last="Curry">Cynthia J. Curry</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, University of California, San Francisco, CA, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of California, San Francisco, CA</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<affiliation wicri:level="3"><nlm:affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Le Luyer, Bernard" sort="Le Luyer, Bernard" uniqKey="Le Luyer B" first="Bernard" last="Le Luyer">Bernard Le Luyer</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Pédiatrie, CH Le Havre, F-76083, Le Havre, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Pédiatrie, CH Le Havre, F-76083, Le Havre</wicri:regionArea>
<placeName><region type="region" nuts="2">Région Normandie</region>
<region type="old region" nuts="2">Haute-Normandie</region>
<settlement type="city">Le Havre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name>
<affiliation wicri:level="3"><nlm:affiliation>Département de Génétique et Centre de Référence "Déficiences intellectuelles de causes rares", La Pitié Salpêtrière, F-75651, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique et Centre de Référence "Déficiences intellectuelles de causes rares", La Pitié Salpêtrière, F-75651, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mathieu Dramard, Michele" sort="Mathieu Dramard, Michele" uniqKey="Mathieu Dramard M" first="Michèle" last="Mathieu-Dramard">Michèle Mathieu-Dramard</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Génétique clinique, CHU Amiens, F-80054, Amiens, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique clinique, CHU Amiens, F-80054, Amiens</wicri:regionArea>
<placeName><region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Picardie</region>
<settlement type="city">Amiens</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Pédiatrie, CHU Jean Verdier, F-93143, Bondy, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Pédiatrie, CHU Jean Verdier, F-93143, Bondy</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Bondy</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Génétique clinique, CHU Rennes, F-35203, Rennes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique clinique, CHU Rennes, F-35203, Rennes</wicri:regionArea>
<placeName><region type="region" nuts="2">Région Bretagne</region>
<settlement type="city">Rennes</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<affiliation wicri:level="3"><nlm:affiliation>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital Necker Enfants Malades, F-75743, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kuentz, Paul" sort="Kuentz, Paul" uniqKey="Kuentz P" first="Paul" last="Kuentz">Paul Kuentz</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Laville, Martine" sort="Laville, Martine" uniqKey="Laville M" first="Martine" last="Laville">Martine Laville</name>
<affiliation wicri:level="3"><nlm:affiliation>Département d'Endocrinologie, Diabétologie et Nutrition, Hospices Civils de Lyon, Centre Hospitalier Lyon-Sud, F-69530, Pierre-Bénite, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département d'Endocrinologie, Diabétologie et Nutrition, Hospices Civils de Lyon, Centre Hospitalier Lyon-Sud, F-69530, Pierre-Bénite</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Pierre-Bénite</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Reznik, Yves" sort="Reznik, Yves" uniqKey="Reznik Y" first="Yves" last="Reznik">Yves Reznik</name>
<affiliation wicri:level="3"><nlm:affiliation>Service d'Endocrinologie, Centre Hospitalier Universitaire Côte-de-Nacre, F-14033, Caen, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service d'Endocrinologie, Centre Hospitalier Universitaire Côte-de-Nacre, F-14033, Caen</wicri:regionArea>
<placeName><region type="region" nuts="2">Région Normandie</region>
<region type="old region" nuts="2">Basse-Normandie</region>
<settlement type="city">Caen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fagour, Cedric" sort="Fagour, Cedric" uniqKey="Fagour C" first="Cédric" last="Fagour">Cédric Fagour</name>
<affiliation wicri:level="3"><nlm:affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac</wicri:regionArea>
<placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region>
<region type="old region" nuts="2">Aquitaine</region>
<settlement type="city">Pessac</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nunes, Marie Laure" sort="Nunes, Marie Laure" uniqKey="Nunes M" first="Marie-Laure" last="Nunes">Marie-Laure Nunes</name>
<affiliation wicri:level="3"><nlm:affiliation>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département d'Endocrinologie, Hôpital Haut-Lévêque, Centre Hospitalier Universitaire de Bordeaux, F-33604, Pessac</wicri:regionArea>
<placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region>
<region type="old region" nuts="2">Aquitaine</region>
<settlement type="city">Pessac</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Delesalle, Dorothee" sort="Delesalle, Dorothee" uniqKey="Delesalle D" first="Dorothée" last="Delesalle">Dorothée Delesalle</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de pédiatrie, CH de Valencienne, Valencienne, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de pédiatrie, CH de Valencienne, Valencienne</wicri:regionArea>
<wicri:noRegion>Valencienne</wicri:noRegion>
<wicri:noRegion>Valencienne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Manouvrier, Sylvie" sort="Manouvrier, Sylvie" uniqKey="Manouvrier S" first="Sylvie" last="Manouvrier">Sylvie Manouvrier</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre de Référence CLAD NdF- Service de génétique clinique Guy Fontaine, CHRU de Lille- Hôpital Jeanne de Flandre, Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Référence CLAD NdF- Service de génétique clinique Guy Fontaine, CHRU de Lille- Hôpital Jeanne de Flandre, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lascols, Olivier" sort="Lascols, Olivier" uniqKey="Lascols O" first="Olivier" last="Lascols">Olivier Lascols</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre d'Investigation Clinique-Epidémiologique Clinique / essais cliniques du CHU de Dijon, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre d'Investigation Clinique-Epidémiologique Clinique / essais cliniques du CHU de Dijon, Dijon</wicri:regionArea>
<placeName><settlement type="city">Dijon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Vigouroux, Corinne" sort="Vigouroux, Corinne" uniqKey="Vigouroux C" first="Corinne" last="Vigouroux">Corinne Vigouroux</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, UMR_S938, Centre de Recherche Saint-Antoine, F-75012, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nj Lstad, P L Rasmus" sort="Nj Lstad, P L Rasmus" uniqKey="Nj Lstad P" first="P L Rasmus" last="Nj Lstad">P L Rasmus Nj Lstad</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Haukeland, University Hospital, N-5021, Bergen, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Pediatrics, Haukeland, University Hospital, N-5021, Bergen</wicri:regionArea>
<wicri:noRegion>Bergen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Innes, A Micheil" sort="Innes, A Micheil" uniqKey="Innes A" first="A Micheil" last="Innes">A Micheil Innes</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1</wicri:regionArea>
<orgName type="university">Université de Calgary</orgName>
<placeName><settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name>
<affiliation wicri:level="4"><nlm:affiliation>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>EA4271 "Génétique des Anomalies du Développement" (GAD), Université de Bourgogne, F-21079, Dijon</wicri:regionArea>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">Clinical genetics</title>
<idno type="eISSN">1399-0004</idno>
<imprint><date when="2015" type="published">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Diabète</term>
</keywords>
<keywords scheme="mix" xml:lang="en"><term>Diabetes</term>
<term>Insulin Resistance</term>
<term>PIK3R1 gene</term>
<term>SHORT syndrome</term>
<term>intrauterine growth restriction</term>
<term>lipoatrophy</term>
<term>short stature</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had 4 or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included IUGR < 10(th) percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Canada</li>
<li>Espagne</li>
<li>France</li>
<li>Norvège</li>
<li>Royaume-Uni</li>
<li>République populaire de Chine</li>
<li>États-Unis</li>
</country>
<region><li>Alberta</li>
<li>Aquitaine</li>
<li>Auvergne-Rhône-Alpes</li>
<li>Bade-Wurtemberg</li>
<li>Basse-Normandie</li>
<li>Bourgogne</li>
<li>Bourgogne-Franche-Comté</li>
<li>Californie</li>
<li>Communauté de Madrid</li>
<li>District de Karlsruhe</li>
<li>Guangdong</li>
<li>Haute-Normandie</li>
<li>Hauts-de-France</li>
<li>Nouvelle-Aquitaine</li>
<li>Picardie</li>
<li>Rhône-Alpes</li>
<li>Région Bretagne</li>
<li>Région Normandie</li>
<li>Île-de-France</li>
</region>
<settlement><li>Amiens</li>
<li>Bondy</li>
<li>Caen</li>
<li>Calgary</li>
<li>Dijon</li>
<li>Heidelberg</li>
<li>Le Havre</li>
<li>Lille</li>
<li>Madrid</li>
<li>Paris</li>
<li>Pessac</li>
<li>Pierre-Bénite</li>
<li>Rennes</li>
<li>Shenzhen</li>
</settlement>
<orgName><li>Université de Bourgogne</li>
<li>Université de Calgary</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Albanese, Assunta" sort="Albanese, Assunta" uniqKey="Albanese A" first="Assunta" last="Albanese">Assunta Albanese</name>
</noCountry>
<country name="France"><region name="Bourgogne-Franche-Comté"><name sortKey="Avila, Magali" sort="Avila, Magali" uniqKey="Avila M" first="Magali" last="Avila">Magali Avila</name>
</region>
<name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name>
<name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name>
<name sortKey="Delesalle, Dorothee" sort="Delesalle, Dorothee" uniqKey="Delesalle D" first="Dorothée" last="Delesalle">Dorothée Delesalle</name>
<name sortKey="Fagour, Cedric" sort="Fagour, Cedric" uniqKey="Fagour C" first="Cédric" last="Fagour">Cédric Fagour</name>
<name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
<name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name>
<name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name>
<name sortKey="Kuentz, Paul" sort="Kuentz, Paul" uniqKey="Kuentz P" first="Paul" last="Kuentz">Paul Kuentz</name>
<name sortKey="Lascols, Olivier" sort="Lascols, Olivier" uniqKey="Lascols O" first="Olivier" last="Lascols">Olivier Lascols</name>
<name sortKey="Laville, Martine" sort="Laville, Martine" uniqKey="Laville M" first="Martine" last="Laville">Martine Laville</name>
<name sortKey="Le Luyer, Bernard" sort="Le Luyer, Bernard" uniqKey="Le Luyer B" first="Bernard" last="Le Luyer">Bernard Le Luyer</name>
<name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<name sortKey="Manouvrier, Sylvie" sort="Manouvrier, Sylvie" uniqKey="Manouvrier S" first="Sylvie" last="Manouvrier">Sylvie Manouvrier</name>
<name sortKey="Mathieu Dramard, Michele" sort="Mathieu Dramard, Michele" uniqKey="Mathieu Dramard M" first="Michèle" last="Mathieu-Dramard">Michèle Mathieu-Dramard</name>
<name sortKey="Nunes, Marie Laure" sort="Nunes, Marie Laure" uniqKey="Nunes M" first="Marie-Laure" last="Nunes">Marie-Laure Nunes</name>
<name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
<name sortKey="Reznik, Yves" sort="Reznik, Yves" uniqKey="Reznik Y" first="Yves" last="Reznik">Yves Reznik</name>
<name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name>
<name sortKey="St Onge, Judith" sort="St Onge, Judith" uniqKey="St Onge J" first="Judith" last="St-Onge">Judith St-Onge</name>
<name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name>
<name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
<name sortKey="Vigouroux, Corinne" sort="Vigouroux, Corinne" uniqKey="Vigouroux C" first="Corinne" last="Vigouroux">Corinne Vigouroux</name>
</country>
<country name="Canada"><noRegion><name sortKey="Dyment, David A" sort="Dyment, David A" uniqKey="Dyment D" first="David A" last="Dyment">David A. Dyment</name>
</noRegion>
<name sortKey="Innes, A Micheil" sort="Innes, A Micheil" uniqKey="Innes A" first="A Micheil" last="Innes">A Micheil Innes</name>
<name sortKey="Jobling, Rebekah K" sort="Jobling, Rebekah K" uniqKey="Jobling R" first="Rebekah K" last="Jobling">Rebekah K. Jobling</name>
<name sortKey="Sawyer, Sarah L" sort="Sawyer, Sarah L" uniqKey="Sawyer S" first="Sarah L" last="Sawyer">Sarah L. Sawyer</name>
<name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name>
</country>
<country name="Norvège"><noRegion><name sortKey="Sagen, J Rn V" sort="Sagen, J Rn V" uniqKey="Sagen J" first="J Rn V" last="Sagen">J Rn V. Sagen</name>
</noRegion>
<name sortKey="Claudi, Tor" sort="Claudi, Tor" uniqKey="Claudi T" first="Tor" last="Claudi">Tor Claudi</name>
<name sortKey="Nj Lstad, P L Rasmus" sort="Nj Lstad, P L Rasmus" uniqKey="Nj Lstad P" first="P L Rasmus" last="Nj Lstad">P L Rasmus Nj Lstad</name>
</country>
<country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name>
</region>
<name sortKey="Konig, Rainer" sort="Konig, Rainer" uniqKey="Konig R" first="Rainer" last="König">Rainer König</name>
</country>
<country name="République populaire de Chine"><region name="Guangdong"><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H Y" last="Chung">Brian H Y. Chung</name>
</region>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
</noRegion>
</country>
<country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Garcia, Sixto" sort="Garcia, Sixto" uniqKey="Garcia S" first="Sixto" last="Garcia">Sixto Garcia</name>
</region>
<name sortKey="Lopez, Ainhoa Abad" sort="Lopez, Ainhoa Abad" uniqKey="Lopez A" first="Ainhoa Abad" last="Lopez">Ainhoa Abad Lopez</name>
<name sortKey="Ortiz Martin, David" sort="Ortiz Martin, David" uniqKey="Ortiz Martin D" first="David" last="Ortiz Martin">David Ortiz Martin</name>
</country>
<country name="Australie"><noRegion><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M" last="White">Susan M. White</name>
</noRegion>
</country>
<country name="États-Unis"><region name="Californie"><name sortKey="Bernstein, Jon A" sort="Bernstein, Jon A" uniqKey="Bernstein J" first="Jon A" last="Bernstein">Jon A. Bernstein</name>
</region>
<name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J" last="Curry">Cynthia J. Curry</name>
<name sortKey="Slattery, Leah" sort="Slattery, Leah" uniqKey="Slattery L" first="Leah" last="Slattery">Leah Slattery</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/France/explor/LeHavreV1/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000184 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000184 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/France
   |area=    LeHavreV1
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     pubmed:26497935
   |texte=   Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:26497935" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a LeHavreV1

This area was generated with Dilib version V0.6.25.
Data generation: Sat Dec 3 14:37:02 2016. Site generation: Tue Mar 5 08:25:07 2024

Serveur d'exploration sur la visibilité du Havre

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur la visibilité du Havre
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.