ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene

Clinical and Experimental Dermatology

Volumn 29, Issue 6, 2004, Pages 669-672

  Chan, I ^a   Harper, J I ^b   Mellerio, J E ^a,b   McGrath, J A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P63; TRANSCRIPTION FACTOR;

ACRODERMATOUNGUALLACRIMAL TOOTH SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ECTODERMAL DYSPLASIA; ECTRODACTYLY; GENE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HUMAN; HYPODONTIA; LACRIMAL DUCT OCCLUSION; MALE; MISSENSE MUTATION; NAIL DYSTROPHY; P63 GENE; PHENOTYPE; PRIORITY JOURNAL;

BASE SEQUENCE; CHILD; DNA-BINDING PROTEINS; ECTODERMAL DYSPLASIA; GENES, TUMOR SUPPRESSOR; HAND DEFORMITIES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHOSPHOPROTEINS; SYNDROME; TOOTH ABNORMALITIES; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 9644257019     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01643.x     Document Type: Article

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