VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

Human Mutation

Volumn 33, Issue 2, 2012, Pages 364-368

  Slavotinek, Anne M ^a   Chao, Ryan ^a   Vacik, Tomas ^b   Yahyavi, Mani ^a   Abouzeid, Hana ^c   Bardakjian, Tanya ^d   Schneider, Adele ^d   Shaw, Gary ^e   Sherr, Elliott H ^a   Lemke, Greg ^b   Youssef, Mohammed ^f   Schorderet, Daniel F ^g  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b SALK INSTITUTE FOR BIOLOGICAL STUDIES   (United States)

^c JULES GONIN EYE HOSPITAL   (Switzerland)

^d ALBERT EINSTEIN MEDICAL CENTER   (United States)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f ALEXANDRIA UNIVERSITY   (Egypt)

^g UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

Anophthalmia microphthalmia; Coloboma; Vax1; Vax2

Indexed keywords

ARGININE; PROTEIN; SERINE; UNCLASSIFIED DRUG; VAX1 PROTEIN; VAX2 PROTEIN;

AMINO ACID SUBSTITUTION; ANOPHTHALMIA; ARTICLE; CHILD; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; EGYPT; EXON; GENE SEQUENCE; GENETIC CODE; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MICROPHTHALMIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

AGENESIS OF CORPUS CALLOSUM; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CLEFT LIP; CLEFT PALATE; EXONS; GENE FREQUENCY; HEK293 CELLS; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; MALE; MICROPHTHALMOS; MUTATION; PHENOTYPE; TRANSCRIPTION FACTORS;

DANIO RERIO; MUS;

EID: 84857789719     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21658     Document Type: Article

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