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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Identifieur interne : 000670 ( France/Analysis ); précédent : 000669; suivant : 000671

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Auteurs : Benjamin Solomon [États-Unis] ; Felicitas Lacbawan [États-Unis] ; Sandra Mercier [France] ; Nancy Clegg [États-Unis] ; Mauricio Delgado [États-Unis] ; Kenneth Rosenbaum [États-Unis] ; Christèle Dubourg [France] ; Véronique David [France] ; Ann Haskins Olney [États-Unis] ; Lars-Erik Wehner [Allemagne] ; Ute Hehr [Allemagne] ; Sherri Bale [États-Unis] ; Aimee Paulussen [Pays-Bas] ; Hubert Smeets [Pays-Bas] ; Emily Hardisty [États-Unis] ; Anna Tylki-Szymanska [Pologne] ; Ewa Pronicka [Pologne] ; Michelle Clemens [États-Unis] ; Elizabeth Mcpherson [États-Unis] ; Raoul Hennekam [Pays-Bas] ; Jin Hahn [États-Unis] ; Elaine Stashinko [États-Unis] ; Eric Levey [États-Unis] ; Dagmar Wieczorek [Allemagne] ; Elizabeth Roeder [États-Unis] ; Chayim Can Schell-Apacik [Allemagne] ; Carol Booth [États-Unis] ; Ronald Thomas [États-Unis] ; Sue Kenwrick [Royaume-Uni] ; Amelia Keaton [États-Unis] ; Joan Balog [États-Unis] ; Donald Hadley [États-Unis] ; Nan Zhou [États-Unis] ; Robert Long [États-Unis] ; Jorge Velez [États-Unis] ; Daniel Pineda-Alvarez [États-Unis] ; Sylvie Odent [France] ; Erich Roessler [États-Unis] ; Maximilian Muenke [États-Unis]

Source :

RBID : Hal:inserm-00439659

Abstract

HPE due to ZIC2 mutations is distinct from that due to mutations in other genes. This may shed light on the mechanisms involved in formation of the forebrain and face and will help direct genetic counselling and diagnostic strategies.

Url:
DOI: 10.1136/jmg.2009.073049


Affiliations:


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Hal:inserm-00439659

Le document en format XML

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<name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
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<country>Allemagne</country>
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<name sortKey="Roeder, Elizabeth" sort="Roeder, Elizabeth" uniqKey="Roeder E" first="Elizabeth" last="Roeder">Elizabeth Roeder</name>
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<orgName>Department of Pediatrics</orgName>
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<name sortKey="Schell Apacik, Chayim Can" sort="Schell Apacik, Chayim Can" uniqKey="Schell Apacik C" first="Chayim Can" last="Schell-Apacik">Chayim Can Schell-Apacik</name>
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<ref type="url">http://www.uni-muenchen.de</ref>
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<name sortKey="Booth, Carol" sort="Booth, Carol" uniqKey="Booth C" first="Carol" last="Booth">Carol Booth</name>
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<orgName>Department of Genetics</orgName>
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<name sortKey="Thomas, Ronald" sort="Thomas, Ronald" uniqKey="Thomas R" first="Ronald" last="Thomas">Ronald Thomas</name>
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<orgName>Cancer Genetics Branch</orgName>
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<address>
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<hal:affiliation type="laboratory" xml:id="struct-51650" status="INCOMING">
<orgName>Cancer Genetics Branch</orgName>
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<address>
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<orgName>Cancer Genetics Branch</orgName>
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<address>
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<hal:affiliation type="laboratory" xml:id="struct-51650" status="INCOMING">
<orgName>Cancer Genetics Branch</orgName>
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<address>
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<address>
<country key="FR"></country>
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<name sortKey="Velez, Jorge" sort="Velez, Jorge" uniqKey="Velez J" first="Jorge" last="Velez">Jorge Velez</name>
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<address>
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<address>
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<orgName>Cancer Genetics Branch</orgName>
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<address>
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<name sortKey="Tylki Szymanska, Anna" sort="Tylki Szymanska, Anna" uniqKey="Tylki Szymanska A" first="Anna" last="Tylki-Szymanska">Anna Tylki-Szymanska</name>
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<name sortKey="Pronicka, Ewa" sort="Pronicka, Ewa" uniqKey="Pronicka E" first="Ewa" last="Pronicka">Ewa Pronicka</name>
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<address>
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<name sortKey="Roeder, Elizabeth" sort="Roeder, Elizabeth" uniqKey="Roeder E" first="Elizabeth" last="Roeder">Elizabeth Roeder</name>
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<orgName>Department of Pediatrics</orgName>
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<name sortKey="Schell Apacik, Chayim Can" sort="Schell Apacik, Chayim Can" uniqKey="Schell Apacik C" first="Chayim Can" last="Schell-Apacik">Chayim Can Schell-Apacik</name>
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<ref type="url">http://www.uni-muenchen.de</ref>
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<address>
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<address>
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<address>
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<address>
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<name sortKey="Balog, Joan" sort="Balog, Joan" uniqKey="Balog J" first="Joan" last="Balog">Joan Balog</name>
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<address>
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<address>
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<address>
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<idno type="DOI">10.1136/jmg.2009.073049</idno>
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<div type="abstract" xml:lang="en">HPE due to ZIC2 mutations is distinct from that due to mutations in other genes. This may shed light on the mechanisms involved in formation of the forebrain and face and will help direct genetic counselling and diagnostic strategies.</div>
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