Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Human Molecular Genetics

Volumn 10, Issue 3, 2001, Pages 221-229

  McGrath, John A ^a   Duijf, Pascal H G ^b,c   Doetsch, Volker ^d   Irvine, Alan D ^a,e   De Waal, Rob ^b   Vanmolkot, Kaate R J ^b   Wessagowit, Vesarat ^a   Kelly, Alexander ^d   Atherton, David J ^e   Griffiths, W Andrew D ^a   Orlow, Seth J ^f   Van Haeringen, Arie ^g   Ausems, Margreet G E M ^h   Yang, Annie ^c   McKeon, Frank ^c   Bamshad, Michael A ⁱ   Brunner, Han G ^b   Hamel, Ben C J ^b   Van Bokhoven, Hans ^b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^f NY School of Medicine   (United States)

^g LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

ⁱ UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; PROTEIN P63;

ADULT; ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLEFT LIP PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION FUNCTION; DNA BINDING; ECTODERMAL DYSPLASIA; ECTRODACTYLY; EYELID DISEASE; FAMILY; FEMALE; GENETIC LINKAGE; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPODONTIA; INFANT; MALE; MISSENSE MUTATION; NAIL DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLEIOTROPY; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; SKIN DISEASE; STERILE ALPHA MOTIF; SYNDROME;

EID: 0035253507     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.3.221     Document Type: Article

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