The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

Human Mutation

Volumn 30, Issue 4, 2009, Pages

  Roessler, Erich ^a   Lacbawan, Felicitas ^a   Dubourg, Christele ^b,c   Paulussen, Aimee ^d   Herbergs, Jos ^d   Hehr, Ute ^e   Bendavid, Claude ^b,c   Zhou, Nan ^a   Ouspenskaia, Maia ^a   Bale, Sherri ^f   Odent, Sylvie ^c,g   David, Veronique ^b,c   Muenke, Maximilian ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ DE RENNES 1   (France)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

^f GENEDX   (United States)

^g SERVICE DE RHUMATOLOGIE   (France)

Author keywords

Holoprosencephaly; Mutation spectrum; ZIC2

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; CONTROLLED STUDY; FOREBRAIN; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HOLOPROSENCEPHALY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; ZIC2 GENE; ZINC FINGER MOTIF;

AMINO ACID SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; HOLOPROSENCEPHALY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

MURINAE; MUS;

EID: 63749102692     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20982     Document Type: Article

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