Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation

British Journal of Dermatology

Volumn 162, Issue 1, 2010, Pages 201-207

  Clements, S E ^a   Techanukul, T ^a   Coman, D ^b   Mellerio, J E ^a   McGrath, J A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Ectodermal dysplasia; Limb development; Skin; Transcription factor

Indexed keywords

PROTEIN TP63; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; DNA BINDING; EEC SYNDROME; EMBRYO DEVELOPMENT; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; HUMAN; HYPODONTIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHILD, PRESCHOOL; CLEFT LIP; ECTODERMAL DYSPLASIA; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENOTYPE; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 72749094721     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09496.x     Document Type: Article

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