AustralieFrV1, Main, Exploration, bibRecord, 005A58

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

Identifieur interne : 005A58 ( Main/Exploration ); précédent : 005A57; suivant : 005A59

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

Auteurs : Joyce Ei Hokayem [France] ; Céline Huber [France] ; Adeline Couve [France] ; Jacqueline Aziza [France] ; Genevieve Baujat [France] ; Raymonde Bouvier [France] ; Denise P. Cavalcanti [Brésil] ; Felicity A. Collins [Australie] ; Marie-Pierre Cordier [France] ; Anne-Lise Delezoide [France] ; Marie Gonzales [France] ; Diana Johnson [Royaume-Uni] ; Martine Le Merrer [France] ; Annie Levy-Mozziconacci [France] ; Philippe Loget [France] ; Dominique Martin-Coignard [France] ; Jelena Martinovic [France] ; Geert R. Mortier [Belgique] ; Marie-José Perez [France] ; Joëlle Roume [France] ; Gioacchino Scarano [Italie] ; Arnold Munnich [France] ; Valérie Cormier-Daire [France]

Source :

Journal of medical genetics [ 0022-2593 ] ; 2012.

RBID : Pascal:12-0186228

Descripteurs français

Pascal (Inist)
- Polydactylie, Côte (os), Etude cas, Génétique, Homme, Membre supérieur.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Case study, Genetics, Human, Polydactyly, Rib (bone), Upper limb.

Abstract

Background The lethal short rib polydactyly syndromes (SRP type I-IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. NEK1 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance. Methods The aim of this study was to screen DYNC2H1 and NEK1 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen DYNC2H1 in two patients due to insufficient amount of DNA. Results The study identified homozygous NEK1 mutations in 5/13 SRP type II and compound heterozygous DYNC2H1 mutations in 4/12 cases. Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group. Conclusion This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.

Affiliations:

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases</title>
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<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Couve, Adeline" sort="Couve, Adeline" uniqKey="Couve A" first="Adeline" last="Couve">Adeline Couve</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Aziza, Jacqueline" sort="Aziza, Jacqueline" uniqKey="Aziza J" first="Jacqueline" last="Aziza">Jacqueline Aziza</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Laboratoire d'anatomie et cytologie pathologiques, Hôpital Purpan</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Genevieve" last="Baujat">Genevieve Baujat</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Bouvier, Raymonde" sort="Bouvier, Raymonde" uniqKey="Bouvier R" first="Raymonde" last="Bouvier">Raymonde Bouvier</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Centre de pathologie EST, Hôpital Louis Pradel, Hôpital Pierre Wertheimer, Hôpital Femme Mere enfant</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cavalcanti, Denise P" sort="Cavalcanti, Denise P" uniqKey="Cavalcanti D" first="Denise P." last="Cavalcanti">Denise P. Cavalcanti</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Programa de Genética Perinatal, Departamento de Genética Médica, FCM, UNICAMP, Campinas</s1>
<s2>São Paulo</s2>
<s3>BRA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Collins, Felicity A" sort="Collins, Felicity A" uniqKey="Collins F" first="Felicity A." last="Collins">Felicity A. Collins</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Western Sydney Genetics Program, Department of Clinical Genetics, Children's, Hospital at Westmead</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cordier, Marie Pierre" sort="Cordier, Marie Pierre" uniqKey="Cordier M" first="Marie-Pierre" last="Cordier">Marie-Pierre Cordier</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Service de Génétique, Groupement Hospitalier Est, HFME</s1>
<s2>Bron</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>Bron</wicri:noRegion>
<wicri:noRegion>HFME</wicri:noRegion>
<wicri:noRegion>Bron</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Delezoide, Anne Lise" sort="Delezoide, Anne Lise" uniqKey="Delezoide A" first="Anne-Lise" last="Delezoide">Anne-Lise Delezoide</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gonzales, Marie" sort="Gonzales, Marie" uniqKey="Gonzales M" first="Marie" last="Gonzales">Marie Gonzales</name>
<affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, (AP-HP), Universíté Pierre et Marie Curie</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
<author><name sortKey="Johnson, Diana" sort="Johnson, Diana" uniqKey="Johnson D" first="Diana" last="Johnson">Diana Johnson</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundations Trust</s1>
<s2>Western Bank</s2>
<s3>GBR</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Western Bank</wicri:noRegion>
</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="4"><inist:fA14 i1="01"><s1>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Levy Mozziconacci, Annie" sort="Levy Mozziconacci, Annie" uniqKey="Levy Mozziconacci A" first="Annie" last="Levy-Mozziconacci">Annie Levy-Mozziconacci</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Nord</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Provence-Alpes-Côte d'Azur</region>
<region type="old region">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Loget, Philippe" sort="Loget, Philippe" uniqKey="Loget P" first="Philippe" last="Loget">Philippe Loget</name>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Centre hospitalier universitaire de Rennes, Service d'anatomie et cytologie pathologiques</s1>
<s2>Rennes</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Région Bretagne</region>
<region type="old region">Région Bretagne</region>
<settlement type="city">Rennes</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Martin Coignard, Dominique" sort="Martin Coignard, Dominique" uniqKey="Martin Coignard D" first="Dominique" last="Martin-Coignard">Dominique Martin-Coignard</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Pôle de biopathologie, UF 3162, Centre hospitalier</s1>
<s2>Le Mans</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Pays de la Loire</region>
<region type="old region">Pays de la Loire</region>
<settlement type="city">Le Mans</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"><inist:fA14 i1="13"><s1>Unit of Fetal Pathology, Cerba Laboratory</s1>
<s2>Cergy Pontoise</s2>
<s3>FRA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>Cergy Pontoise</wicri:noRegion>
<wicri:noRegion>Cerba Laboratory</wicri:noRegion>
<wicri:noRegion>Cergy Pontoise</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R." last="Mortier">Geert R. Mortier</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp</s1>
<s2>Antwerp</s2>
<s3>BEL</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</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="3"><inist:fA14 i1="15"><s1>Département Génétique Médicale, Arnaud de Villeneuve Hospital</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joëlle" last="Roume">Joëlle Roume</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Service de génétique médicale, centre hospitalier Poissy-Saint-Germain</s1>
<s3>FRA</s3>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>centre hospitalier Poissy-Saint-Germain</wicri:noRegion>
<wicri:noRegion>Service de génétique médicale, centre hospitalier Poissy-Saint-Germain</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Department of Medical Genetics, Sannio University</s1>
<s2>Benevento</s2>
<s3>ITA</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Benevento</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Journal of medical genetics</title>
<title level="j" type="abbreviated">J. med. genet.</title>
<idno type="ISSN">0022-2593</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Journal of medical genetics</title>
<title level="j" type="abbreviated">J. med. genet.</title>
<idno type="ISSN">0022-2593</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term>
<term>Genetics</term>
<term>Human</term>
<term>Polydactyly</term>
<term>Rib (bone)</term>
<term>Upper limb</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Polydactylie</term>
<term>Côte (os)</term>
<term>Etude cas</term>
<term>Génétique</term>
<term>Homme</term>
<term>Membre supérieur</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background The lethal short rib polydactyly syndromes (SRP type I-IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. NEK1 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance. Methods The aim of this study was to screen DYNC2H1 and NEK1 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen DYNC2H1 in two patients due to insufficient amount of DNA. Results The study identified homozygous NEK1 mutations in 5/13 SRP type II and compound heterozygous DYNC2H1 mutations in 4/12 cases. Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group. Conclusion This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Belgique</li>
<li>Brésil</li>
<li>France</li>
<li>Italie</li>
<li>Royaume-Uni</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Languedoc-Roussillon</li>
<li>Midi-Pyrénées</li>
<li>Nouvelle-Galles du Sud</li>
<li>Occitanie (région administrative)</li>
<li>Pays de la Loire</li>
<li>Provence-Alpes-Côte d'Azur</li>
<li>Rhône-Alpes</li>
<li>Région Bretagne</li>
<li>État de São Paulo</li>
<li>Île-de-France</li>
</region>
<settlement><li>Le Mans</li>
<li>Lyon</li>
<li>Marseille</li>
<li>Montpellier</li>
<li>Paris</li>
<li>Rennes</li>
<li>Sydney</li>
<li>São Paulo</li>
<li>Toulouse</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
<li>Université Pierre-et-Marie-Curie</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Ei Hokayem, Joyce" sort="Ei Hokayem, Joyce" uniqKey="Ei Hokayem J" first="Joyce" last="Ei Hokayem">Joyce Ei Hokayem</name>
</region>
<name sortKey="Aziza, Jacqueline" sort="Aziza, Jacqueline" uniqKey="Aziza J" first="Jacqueline" last="Aziza">Jacqueline Aziza</name>
<name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Genevieve" last="Baujat">Genevieve Baujat</name>
<name sortKey="Bouvier, Raymonde" sort="Bouvier, Raymonde" uniqKey="Bouvier R" first="Raymonde" last="Bouvier">Raymonde Bouvier</name>
<name sortKey="Cordier, Marie Pierre" sort="Cordier, Marie Pierre" uniqKey="Cordier M" first="Marie-Pierre" last="Cordier">Marie-Pierre Cordier</name>
<name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<name sortKey="Couve, Adeline" sort="Couve, Adeline" uniqKey="Couve A" first="Adeline" last="Couve">Adeline Couve</name>
<name sortKey="Delezoide, Anne Lise" sort="Delezoide, Anne Lise" uniqKey="Delezoide A" first="Anne-Lise" last="Delezoide">Anne-Lise Delezoide</name>
<name sortKey="Gonzales, Marie" sort="Gonzales, Marie" uniqKey="Gonzales M" first="Marie" last="Gonzales">Marie Gonzales</name>
<name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Céline" last="Huber">Céline Huber</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="Levy Mozziconacci, Annie" sort="Levy Mozziconacci, Annie" uniqKey="Levy Mozziconacci A" first="Annie" last="Levy-Mozziconacci">Annie Levy-Mozziconacci</name>
<name sortKey="Loget, Philippe" sort="Loget, Philippe" uniqKey="Loget P" first="Philippe" last="Loget">Philippe Loget</name>
<name sortKey="Martin Coignard, Dominique" sort="Martin Coignard, Dominique" uniqKey="Martin Coignard D" first="Dominique" last="Martin-Coignard">Dominique Martin-Coignard</name>
<name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name>
<name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name>
<name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joëlle" last="Roume">Joëlle Roume</name>
</country>
<country name="Brésil"><region name="État de São Paulo"><name sortKey="Cavalcanti, Denise P" sort="Cavalcanti, Denise P" uniqKey="Cavalcanti D" first="Denise P." last="Cavalcanti">Denise P. Cavalcanti</name>
</region>
</country>
<country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Collins, Felicity A" sort="Collins, Felicity A" uniqKey="Collins F" first="Felicity A." last="Collins">Felicity A. Collins</name>
</region>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Johnson, Diana" sort="Johnson, Diana" uniqKey="Johnson D" first="Diana" last="Johnson">Diana Johnson</name>
</noRegion>
</country>
<country name="Belgique"><noRegion><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R." last="Mortier">Geert R. Mortier</name>
</noRegion>
</country>
<country name="Italie"><noRegion><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
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   |type=    RBID
   |clé=     Pascal:12-0186228
   |texte=   NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
}}

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NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

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