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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Identifieur interne : 000032 ( France/Analysis ); précédent : 000031; suivant : 000033

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Auteurs : Marie Vincent [France] ; David Geneviève [France] ; Agnès Ostertag [France] ; Sandrine Marlin [France] ; Didier Lacombe [France] ; Dominique Martin-Coignard [France] ; Christine Coubes [France] ; Albert David [France] ; Stanislas Lyonnet [France] ; Catheline Vilain [Belgique] ; Anne Dieux-Coeslier [France] ; Sylvie Manouvrier [France] ; Bertrand Isidor [France] ; Marie-Line Jacquemont [France] ; Sophie Julia [France] ; Valérie Layet [France] ; Sophie Naudion [France] ; Sylvie Odent [France] ; Laurent Pasquier [France] ; Sybille Pelras [France] ; Nicole Philip [France] ; Geneviève Pierquin [Belgique] ; Fabienne Prieur [France] ; Nisrine Aboussair [Maroc] ; Tania Attie-Bitach [France] ; Geneviève Baujat [France] ; Patricia Blanchet [France] ; Catherine Blanchet [France] ; Hélène Dollfus [France] ; Bérénice Doray [France] ; Elise Schaefer [France] ; Patrick Edery [France] ; Fabienne Giuliano [France] ; Alice Goldenberg [France] ; Cyril Goizet [France] ; Agnès Guichet [France] ; Christian Herlin [France] ; Laetitia Lambert [France] ; Bruno Leheup [France] ; Jelena Martinovic [France] ; Sandra Mercier [France] ; Cyril Mignot [France] ; Marie-Laure Moutard [France] ; Marie-José Perez [France] ; Lucile Pinson [France] ; Jacques Puechberty [France] ; Marjolaine Willems [France] ; Hanitra Randrianaivo [France] ; Kateline Szakszon ; Kateline Szaskon ; Annick Toutain [France] ; Alain Verloes [France] ; Jacqueline Vigneron [France] ; Elodie Sanchez [France] ; Pierre Sarda [France] ; Jean-Louis Laplanche [France] ; Corinne Collet [France]

Source :

RBID : pubmed:25790162

English descriptors

Abstract

Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C.

DOI: 10.1038/gim.2015.29
PubMed: 25790162


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pubmed:25790162

Le document en format XML

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<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Hôpital Femme Mère Enfant et Centre de Recherche en Neurosciences de Lyon (CRNL), INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Villeurbanne</wicri:regionArea>
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<settlement type="city">Villeurbanne</settlement>
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</placeName>
<orgName type="university">Université Claude Bernard Lyon 1</orgName>
<placeName>
<settlement type="city">Lyon</settlement>
<region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
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</affiliation>
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<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Nice, Nice, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Nice, Nice</wicri:regionArea>
<placeName>
<settlement type="city">Nice</settlement>
</placeName>
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<author>
<name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Rouen, Rouen, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Rouen, Rouen</wicri:regionArea>
<placeName>
<settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
<affiliation wicri:level="4">
<nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea>
<placeName>
<settlement type="city">Bordeaux</settlement>
</placeName>
<orgName type="university">Université de Bordeaux</orgName>
<placeName>
<settlement type="city">Bordeaux</settlement>
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</placeName>
</affiliation>
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<author>
<name sortKey="Guichet, Agnes" sort="Guichet, Agnes" uniqKey="Guichet A" first="Agnès" last="Guichet">Agnès Guichet</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Angers, Angers, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Angers, Angers</wicri:regionArea>
<placeName>
<settlement type="city">Angers</settlement>
</placeName>
</affiliation>
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<author>
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<affiliation wicri:level="1">
<nlm:affiliation>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lambert, Laetitia" sort="Lambert, Laetitia" uniqKey="Lambert L" first="Laetitia" last="Lambert">Laetitia Lambert</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy</wicri:regionArea>
<placeName>
<settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name>
<affiliation wicri:level="1">
<nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy</wicri:regionArea>
<placeName>
<settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart</wicri:regionArea>
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<wicri:noRegion>Clamart</wicri:noRegion>
</affiliation>
</author>
<author>
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<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea>
<placeName>
<settlement type="city">Nantes</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<affiliation wicri:level="1">
<nlm:affiliation>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name>
<affiliation wicri:level="1">
<nlm:affiliation>APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
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</affiliation>
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<name sortKey="Pinson, Lucile" sort="Pinson, Lucile" uniqKey="Pinson L" first="Lucile" last="Pinson">Lucile Pinson</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
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<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
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</affiliation>
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<author>
<name sortKey="Puechberty, Jacques" sort="Puechberty, Jacques" uniqKey="Puechberty J" first="Jacques" last="Puechberty">Jacques Puechberty</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
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<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
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</affiliation>
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<author>
<name sortKey="Willems, Marjolaine" sort="Willems, Marjolaine" uniqKey="Willems M" first="Marjolaine" last="Willems">Marjolaine Willems</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
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</affiliation>
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<author>
<name sortKey="Randrianaivo, Hanitra" sort="Randrianaivo, Hanitra" uniqKey="Randrianaivo H" first="Hanitra" last="Randrianaivo">Hanitra Randrianaivo</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation>
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<wicri:regionArea>Service de Génétique Médicale, CHU La Réunion, La Réunion</wicri:regionArea>
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<wicri:noRegion>La Réunion</wicri:noRegion>
</affiliation>
</author>
<author>
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</author>
<author>
<name sortKey="Szaskon, Kateline" sort="Szaskon, Kateline" uniqKey="Szaskon K" first="Kateline" last="Szaskon">Kateline Szaskon</name>
<affiliation>
<nlm:affiliation>Klinikai Genetikai Kôzpont, Gyermekklinika, Debrecen, Hungria.</nlm:affiliation>
<wicri:noCountry code="subField">Hungria</wicri:noCountry>
</affiliation>
</author>
<author>
<name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Tours, Tours, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Tours, Tours</wicri:regionArea>
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<settlement type="city">Tours</settlement>
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</affiliation>
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<affiliation wicri:level="1">
<nlm:affiliation>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris</wicri:regionArea>
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<settlement type="city">Paris</settlement>
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</author>
<author>
<name sortKey="Vigneron, Jacqueline" sort="Vigneron, Jacqueline" uniqKey="Vigneron J" first="Jacqueline" last="Vigneron">Jacqueline Vigneron</name>
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<nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy</wicri:regionArea>
<placeName>
<settlement type="city">Nancy</settlement>
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</affiliation>
</author>
<author>
<name sortKey="Sanchez, Elodie" sort="Sanchez, Elodie" uniqKey="Sanchez E" first="Elodie" last="Sanchez">Elodie Sanchez</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
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</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sarda, Pierre" sort="Sarda, Pierre" uniqKey="Sarda P" first="Pierre" last="Sarda">Pierre Sarda</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<placeName>
<settlement type="city">Montpellier</settlement>
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</affiliation>
</author>
<author>
<name sortKey="Laplanche, Jean Louis" sort="Laplanche, Jean Louis" uniqKey="Laplanche J" first="Jean-Louis" last="Laplanche">Jean-Louis Laplanche</name>
<affiliation wicri:level="1">
<nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
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<name sortKey="Collet, Corinne" sort="Collet, Corinne" uniqKey="Collet C" first="Corinne" last="Collet">Corinne Collet</name>
<affiliation wicri:level="1">
<nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea>
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<title xml:lang="en">Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.</title>
<author>
<name sortKey="Vincent, Marie" sort="Vincent, Marie" uniqKey="Vincent M" first="Marie" last="Vincent">Marie Vincent</name>
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<nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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</placeName>
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<name sortKey="Marlin, Sandrine" sort="Marlin, Sandrine" uniqKey="Marlin S" first="Sandrine" last="Marlin">Sandrine Marlin</name>
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<country xml:lang="fr">France</country>
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<name sortKey="Martin Coignard, Dominique" sort="Martin Coignard, Dominique" uniqKey="Martin Coignard D" first="Dominique" last="Martin-Coignard">Dominique Martin-Coignard</name>
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<settlement type="city">Le Mans</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea>
<placeName>
<settlement type="city">Nantes</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Vilain, Catheline" sort="Vilain, Catheline" uniqKey="Vilain C" first="Catheline" last="Vilain">Catheline Vilain</name>
<affiliation wicri:level="3">
<nlm:affiliation>Service de Génétique Médicale, Hôpital Erasme, ULB, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Service de Génétique Médicale, Hôpital Erasme, ULB, Brussels</wicri:regionArea>
<placeName>
<settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Dieux Coeslier, Anne" sort="Dieux Coeslier, Anne" uniqKey="Dieux Coeslier A" first="Anne" last="Dieux-Coeslier">Anne Dieux-Coeslier</name>
<affiliation wicri:level="1">
<nlm:affiliation>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille</wicri:regionArea>
<placeName>
<settlement type="city">Lille</settlement>
</placeName>
</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>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Clinique de Génétique "Guy Fontaine," CHRU Lille, Lille</wicri:regionArea>
<placeName>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea>
<placeName>
<settlement type="city">Nantes</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Jacquemont, Marie Line" sort="Jacquemont, Marie Line" uniqKey="Jacquemont M" first="Marie-Line" last="Jacquemont">Marie-Line Jacquemont</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU La Réunion, La Réunion</wicri:regionArea>
<wicri:noRegion>La Réunion</wicri:noRegion>
<wicri:noRegion>La Réunion</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Julia, Sophie" sort="Julia, Sophie" uniqKey="Julia S" first="Sophie" last="Julia">Sophie Julia</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Toulouse, Toulouse, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Toulouse, Toulouse</wicri:regionArea>
<placeName>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHG Le Havre, Le Havre, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHG Le Havre, Le Havre</wicri:regionArea>
<placeName>
<settlement type="city">Le Havre</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Naudion, Sophie" sort="Naudion, Sophie" uniqKey="Naudion S" first="Sophie" last="Naudion">Sophie Naudion</name>
<affiliation wicri:level="4">
<nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea>
<placeName>
<settlement type="city">Bordeaux</settlement>
</placeName>
<orgName type="university">Université de Bordeaux</orgName>
<placeName>
<settlement type="city">Bordeaux</settlement>
<region type="region" nuts="2">Aquitaine</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes</wicri:regionArea>
<placeName>
<settlement type="city">Rennes</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Pasquier, Laurent" sort="Pasquier, Laurent" uniqKey="Pasquier L" first="Laurent" last="Pasquier">Laurent Pasquier</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique, Hôpital sud, CHU de Rennes, Université Rennes 1, UMR 6290 CNRS, Groupe GPLD, Rennes</wicri:regionArea>
<placeName>
<settlement type="city">Rennes</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Pelras, Sybille" sort="Pelras, Sybille" uniqKey="Pelras S" first="Sybille" last="Pelras">Sybille Pelras</name>
<affiliation wicri:level="4">
<nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea>
<placeName>
<settlement type="city">Bordeaux</settlement>
</placeName>
<orgName type="university">Université de Bordeaux</orgName>
<placeName>
<settlement type="city">Bordeaux</settlement>
<region type="region" nuts="2">Aquitaine</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Philip, Nicole" sort="Philip, Nicole" uniqKey="Philip N" first="Nicole" last="Philip">Nicole Philip</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU de Marseille, AP-HM, Marseille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU de Marseille, AP-HM, Marseille</wicri:regionArea>
<placeName>
<settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Pierquin, Genevieve" sort="Pierquin, Genevieve" uniqKey="Pierquin G" first="Geneviève" last="Pierquin">Geneviève Pierquin</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Liège, Liège, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU St Etienne, St Etienne, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU St Etienne, St Etienne</wicri:regionArea>
<wicri:noRegion>St Etienne</wicri:noRegion>
<wicri:noRegion>St Etienne</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Aboussair, Nisrine" sort="Aboussair, Nisrine" uniqKey="Aboussair N" first="Nisrine" last="Aboussair">Nisrine Aboussair</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, Hôpital de Marrakech, Marrakech, Maroc.</nlm:affiliation>
<country xml:lang="fr">Maroc</country>
<wicri:regionArea>Service de Génétique Médicale, Hôpital de Marrakech, Marrakech</wicri:regionArea>
<wicri:noRegion>Marrakech</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Attie Bitach, Tania" sort="Attie Bitach, Tania" uniqKey="Attie Bitach T" first="Tania" last="Attie-Bitach">Tania Attie-Bitach</name>
<affiliation wicri:level="1">
<nlm:affiliation>Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Geneviève" last="Baujat">Geneviève Baujat</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Blanchet, Patricia" sort="Blanchet, Patricia" uniqKey="Blanchet P" first="Patricia" last="Blanchet">Patricia Blanchet</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Blanchet, Catherine" sort="Blanchet, Catherine" uniqKey="Blanchet C" first="Catherine" last="Blanchet">Catherine Blanchet</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service d'ORL, Hôpital Lapeyronie, CHRU Montpellier, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service d'ORL, Hôpital Lapeyronie, CHRU Montpellier, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Strasbourg, Strasbourg</wicri:regionArea>
<placeName>
<settlement type="city">Strasbourg</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Doray, Berenice" sort="Doray, Berenice" uniqKey="Doray B" first="Bérénice" last="Doray">Bérénice Doray</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Strasbourg, Strasbourg</wicri:regionArea>
<placeName>
<settlement type="city">Strasbourg</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Strasbourg, Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Strasbourg, Strasbourg</wicri:regionArea>
<placeName>
<settlement type="city">Strasbourg</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
<affiliation wicri:level="4">
<nlm:affiliation>Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Hôpital Femme Mère Enfant et Centre de Recherche en Neurosciences de Lyon (CRNL), INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Villeurbanne, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Hôpital Femme Mère Enfant et Centre de Recherche en Neurosciences de Lyon (CRNL), INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Villeurbanne</wicri:regionArea>
<placeName>
<settlement type="city">Villeurbanne</settlement>
<settlement type="city" wicri:auto="agglo">Lyon</settlement>
</placeName>
<orgName type="university">Université Claude Bernard Lyon 1</orgName>
<placeName>
<settlement type="city">Lyon</settlement>
<region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Giuliano, Fabienne" sort="Giuliano, Fabienne" uniqKey="Giuliano F" first="Fabienne" last="Giuliano">Fabienne Giuliano</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Nice, Nice, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Nice, Nice</wicri:regionArea>
<placeName>
<settlement type="city">Nice</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Rouen, Rouen, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Rouen, Rouen</wicri:regionArea>
<placeName>
<settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
<affiliation wicri:level="4">
<nlm:affiliation>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Bordeaux, Laboratoire MRGM, EA4576, Université de Bordeaux, Bordeaux</wicri:regionArea>
<placeName>
<settlement type="city">Bordeaux</settlement>
</placeName>
<orgName type="university">Université de Bordeaux</orgName>
<placeName>
<settlement type="city">Bordeaux</settlement>
<region type="region" nuts="2">Aquitaine</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Guichet, Agnes" sort="Guichet, Agnes" uniqKey="Guichet A" first="Agnès" last="Guichet">Agnès Guichet</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Angers, Angers, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Angers, Angers</wicri:regionArea>
<placeName>
<settlement type="city">Angers</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Herlin, Christian" sort="Herlin, Christian" uniqKey="Herlin C" first="Christian" last="Herlin">Christian Herlin</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Chirurgie Plastique et Craniofaciale Pédiatrique, CHU Montpellier, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lambert, Laetitia" sort="Lambert, Laetitia" uniqKey="Lambert L" first="Laetitia" last="Lambert">Laetitia Lambert</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique, Pôle de Néonatologie, Maternité Régionale CHRU de Nancy, Nancy</wicri:regionArea>
<placeName>
<settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name>
<affiliation wicri:level="1">
<nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy</wicri:regionArea>
<placeName>
<settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Hôpital Antoine Béclère, Clamart</wicri:regionArea>
<wicri:noRegion>Clamart</wicri:noRegion>
<wicri:noRegion>Clamart</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes</wicri:regionArea>
<placeName>
<settlement type="city">Nantes</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<affiliation wicri:level="1">
<nlm:affiliation>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris</wicri:regionArea>
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<author>
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<nlm:affiliation>APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.</nlm:affiliation>
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<author>
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<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
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<placeName>
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<name sortKey="Pinson, Lucile" sort="Pinson, Lucile" uniqKey="Pinson L" first="Lucile" last="Pinson">Lucile Pinson</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<settlement type="city">Montpellier</settlement>
</placeName>
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<placeName>
<settlement type="city">Montpellier</settlement>
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</affiliation>
</author>
<author>
<name sortKey="Puechberty, Jacques" sort="Puechberty, Jacques" uniqKey="Puechberty J" first="Jacques" last="Puechberty">Jacques Puechberty</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
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<placeName>
<settlement type="city">Montpellier</settlement>
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</author>
<author>
<name sortKey="Willems, Marjolaine" sort="Willems, Marjolaine" uniqKey="Willems M" first="Marjolaine" last="Willems">Marjolaine Willems</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Randrianaivo, Hanitra" sort="Randrianaivo, Hanitra" uniqKey="Randrianaivo H" first="Hanitra" last="Randrianaivo">Hanitra Randrianaivo</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU La Réunion, La Réunion, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU La Réunion, La Réunion</wicri:regionArea>
<wicri:noRegion>La Réunion</wicri:noRegion>
<wicri:noRegion>La Réunion</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Szakszon, Kateline" sort="Szakszon, Kateline" uniqKey="Szakszon K" first="Kateline" last="Szakszon">Kateline Szakszon</name>
</author>
<author>
<name sortKey="Szaskon, Kateline" sort="Szaskon, Kateline" uniqKey="Szaskon K" first="Kateline" last="Szaskon">Kateline Szaskon</name>
<affiliation>
<nlm:affiliation>Klinikai Genetikai Kôzpont, Gyermekklinika, Debrecen, Hungria.</nlm:affiliation>
<wicri:noCountry code="subField">Hungria</wicri:noCountry>
</affiliation>
</author>
<author>
<name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<affiliation wicri:level="1">
<nlm:affiliation>Service de Génétique Médicale, CHU Tours, Tours, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Tours, Tours</wicri:regionArea>
<placeName>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name>
<affiliation wicri:level="1">
<nlm:affiliation>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Fédération de Génétique, Hôpital Robert Debré, APHP Paris, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Vigneron, Jacqueline" sort="Vigneron, Jacqueline" uniqKey="Vigneron J" first="Jacqueline" last="Vigneron">Jacqueline Vigneron</name>
<affiliation wicri:level="1">
<nlm:affiliation>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pôle Enfants, Service de Médecine Infantile et Génétique Clinique, CHU de Nancy, Nancy</wicri:regionArea>
<placeName>
<settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sanchez, Elodie" sort="Sanchez, Elodie" uniqKey="Sanchez E" first="Elodie" last="Sanchez">Elodie Sanchez</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sarda, Pierre" sort="Sarda, Pierre" uniqKey="Sarda P" first="Pierre" last="Sarda">Pierre Sarda</name>
<affiliation wicri:level="4">
<nlm:affiliation>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Mimes, Université Montpellier 1, Inserm U1183, Montpellier</wicri:regionArea>
<placeName>
<settlement type="city">Montpellier</settlement>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
<placeName>
<settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Laplanche, Jean Louis" sort="Laplanche, Jean Louis" uniqKey="Laplanche J" first="Jean-Louis" last="Laplanche">Jean-Louis Laplanche</name>
<affiliation wicri:level="1">
<nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Collet, Corinne" sort="Collet, Corinne" uniqKey="Collet C" first="Corinne" last="Collet">Corinne Collet</name>
<affiliation wicri:level="1">
<nlm:affiliation>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Genetics in medicine : official journal of the American College of Medical Genetics</title>
<idno type="eISSN">1530-0366</idno>
<imprint>
<date when="2016" type="published">2016</date>
</imprint>
</series>
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</sourceDesc>
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<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Adolescent</term>
<term>Adult</term>
<term>Amino Acid Sequence</term>
<term>Base Sequence</term>
<term>Child</term>
<term>DNA-Directed RNA Polymerases (genetics)</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>Humans</term>
<term>Male</term>
<term>Mandibulofacial Dysostosis (diagnosis)</term>
<term>Mandibulofacial Dysostosis (genetics)</term>
<term>Microcephaly (genetics)</term>
<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Mutation</term>
<term>Nuclear Proteins (genetics)</term>
<term>Peptide Elongation Factors (genetics)</term>
<term>Phosphoproteins (genetics)</term>
<term>Ribonucleoprotein, U5 Small Nuclear (genetics)</term>
<term>Sequence Deletion</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>DNA-Directed RNA Polymerases</term>
<term>Nuclear Proteins</term>
<term>Peptide Elongation Factors</term>
<term>Phosphoproteins</term>
<term>Ribonucleoprotein, U5 Small Nuclear</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en">
<term>Mandibulofacial Dysostosis</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Mandibulofacial Dysostosis</term>
<term>Microcephaly</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adolescent</term>
<term>Adult</term>
<term>Amino Acid Sequence</term>
<term>Base Sequence</term>
<term>Child</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Mutation</term>
<term>Sequence Deletion</term>
<term>Young Adult</term>
</keywords>
</textClass>
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<front>
<div type="abstract" xml:lang="en">Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C.</div>
</front>
</TEI>
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<li>Belgique</li>
<li>France</li>
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<li>Auvergne-Rhône-Alpes</li>
<li>Languedoc-Roussillon</li>
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<li>Lyon</li>
<li>Marseille</li>
<li>Montpellier</li>
<li>Nancy</li>
<li>Nantes</li>
<li>Nice</li>
<li>Paris</li>
<li>Rennes</li>
<li>Rouen</li>
<li>Strasbourg</li>
<li>Toulouse</li>
<li>Tours</li>
<li>Villeurbanne</li>
</settlement>
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<name sortKey="Guichet, Agnes" sort="Guichet, Agnes" uniqKey="Guichet A" first="Agnès" last="Guichet">Agnès Guichet</name>
<name sortKey="Herlin, Christian" sort="Herlin, Christian" uniqKey="Herlin C" first="Christian" last="Herlin">Christian Herlin</name>
<name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name>
<name sortKey="Jacquemont, Marie Line" sort="Jacquemont, Marie Line" uniqKey="Jacquemont M" first="Marie-Line" last="Jacquemont">Marie-Line Jacquemont</name>
<name sortKey="Julia, Sophie" sort="Julia, Sophie" uniqKey="Julia S" first="Sophie" last="Julia">Sophie Julia</name>
<name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<name sortKey="Lambert, Laetitia" sort="Lambert, Laetitia" uniqKey="Lambert L" first="Laetitia" last="Lambert">Laetitia Lambert</name>
<name sortKey="Laplanche, Jean Louis" sort="Laplanche, Jean Louis" uniqKey="Laplanche J" first="Jean-Louis" last="Laplanche">Jean-Louis Laplanche</name>
<name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name>
<name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name>
<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<name sortKey="Manouvrier, Sylvie" sort="Manouvrier, Sylvie" uniqKey="Manouvrier S" first="Sylvie" last="Manouvrier">Sylvie Manouvrier</name>
<name sortKey="Marlin, Sandrine" sort="Marlin, Sandrine" uniqKey="Marlin S" first="Sandrine" last="Marlin">Sandrine Marlin</name>
<name sortKey="Martin Coignard, Dominique" sort="Martin Coignard, Dominique" uniqKey="Martin Coignard D" first="Dominique" last="Martin-Coignard">Dominique Martin-Coignard</name>
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<name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name>
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<name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
<name sortKey="Ostertag, Agnes" sort="Ostertag, Agnes" uniqKey="Ostertag A" first="Agnès" last="Ostertag">Agnès Ostertag</name>
<name sortKey="Pasquier, Laurent" sort="Pasquier, Laurent" uniqKey="Pasquier L" first="Laurent" last="Pasquier">Laurent Pasquier</name>
<name sortKey="Pelras, Sybille" sort="Pelras, Sybille" uniqKey="Pelras S" first="Sybille" last="Pelras">Sybille Pelras</name>
<name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name>
<name sortKey="Philip, Nicole" sort="Philip, Nicole" uniqKey="Philip N" first="Nicole" last="Philip">Nicole Philip</name>
<name sortKey="Pinson, Lucile" sort="Pinson, Lucile" uniqKey="Pinson L" first="Lucile" last="Pinson">Lucile Pinson</name>
<name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<name sortKey="Puechberty, Jacques" sort="Puechberty, Jacques" uniqKey="Puechberty J" first="Jacques" last="Puechberty">Jacques Puechberty</name>
<name sortKey="Randrianaivo, Hanitra" sort="Randrianaivo, Hanitra" uniqKey="Randrianaivo H" first="Hanitra" last="Randrianaivo">Hanitra Randrianaivo</name>
<name sortKey="Sanchez, Elodie" sort="Sanchez, Elodie" uniqKey="Sanchez E" first="Elodie" last="Sanchez">Elodie Sanchez</name>
<name sortKey="Sarda, Pierre" sort="Sarda, Pierre" uniqKey="Sarda P" first="Pierre" last="Sarda">Pierre Sarda</name>
<name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name>
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<name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name>
<name sortKey="Vigneron, Jacqueline" sort="Vigneron, Jacqueline" uniqKey="Vigneron J" first="Jacqueline" last="Vigneron">Jacqueline Vigneron</name>
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<country name="Belgique">
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<name sortKey="Vilain, Catheline" sort="Vilain, Catheline" uniqKey="Vilain C" first="Catheline" last="Vilain">Catheline Vilain</name>
</region>
<name sortKey="Pierquin, Genevieve" sort="Pierquin, Genevieve" uniqKey="Pierquin G" first="Geneviève" last="Pierquin">Geneviève Pierquin</name>
</country>
<country name="Maroc">
<noRegion>
<name sortKey="Aboussair, Nisrine" sort="Aboussair, Nisrine" uniqKey="Aboussair N" first="Nisrine" last="Aboussair">Nisrine Aboussair</name>
</noRegion>
</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 000032 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000032 | 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:25790162
   |texte=   Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:25790162" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a LeHavreV1 

Wicri

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