Mutations in ZIC2 in human holoprosencephaly: Description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Journal of Medical Genetics

Volumn 47, Issue 8, 2010, Pages 513-524

  Solomon, Benjamin D ^a   Lacbawan, Felicitas ^a,b   Mercier, Sandra ^c,d   Clegg, Nancy J ^e   Delgado, Mauricio R ^e   Rosenbaum, Kenneth ^f   Dubourg, Christèle ^c   David, Veronique ^c   Olney, Ann Haskins ^g   Wehner, Lars Erik ^h   Hehr, Ute ⁱ   Bale, Sherri ^j   Paulussen, Aimee ^k   Smeets, Hubert J ^k   Hardisty, Emily ^l   Tylki Szymanska, Anna ^m   Pronicka, Ewa ^m   Clemens, Michelle ⁿ   McPherson, Elizabeth ^o   Hennekam, Raoul C M ^p,q   Hahn, Jin ^r   Stashinko, Elaine ^s   Levey, Eric ^s   Wieczorek, Dagmar ^t   Roeder, Elizabeth ^u   Schell Apacik, Chayim Can ^v,w   Booth, Carol W ^x   Thomas, Ronald L ^y   Kenwrick, Sue ^z   Cummings, Derek A T ^aa   Bous, Sophia M ^a   Keaton, Amelia ^a   Balog, Joan Z ^a   Hadley, Donald ^a   Zhou, Nan ^a   Long, Robert ^a   Vélez, Jorge I ^a   Pineda Alvarez, Daniel E ^a   Odent, Sylvie ^c,d   Roessler, Erich ^a   Muenke, Maximilian ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

^c UNIVERSITÉ DE RENNES 1   (France)

^d SERVICE DE RHUMATOLOGIE   (France)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^g UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^h Practice of Human Genetics   (Germany)

ⁱ UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^j GENEDX   (United States)

^k MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^l UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^m CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

ⁿ UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^o MARSHFIELD CLINIC   (United States)

^p UNIVERSITY COLLEGE LONDON   (United Kingdom)

^q ACADEMIC MEDICAL CENTER   (Netherlands)

^r STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^s JOHNS HOPKINS UNIVERSITY   (United States)

^t UNIVERSITY OF DUISBURG ESSEN   (Germany)

^u UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^v UNIVERSITY OF MUNICH   (Germany)

^w Practice of Human Genetics   (Germany)

^x ADVOCATE LUTHERAN GENERAL HOSPITAL   (United States)

^y DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^z ADDENBROOKE S HOSPITAL   (United Kingdom)

^aa JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HOLOPROSENCEPHALY; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; ZIC2 GENE;

FEMALE; GENOTYPE; HOLOPROSENCEPHALY; HUMANS; INHERITANCE PATTERNS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PREVALENCE; TRANSCRIPTION FACTORS;

EID: 77956095780     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.073049     Document Type: Article

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