Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder

British Journal of Dermatology

Volumn 163, Issue 3, 2010, Pages 624-629

  Clements, S E ^a   Techanukul, T ^a   Holden, S T ^b   Mellerio, J E ^a   Dorkins, H ^c   Escande, F ^d   McGrath, J A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c Kennedy Galton Centre   (United Kingdom)

^d LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

ankyloblepharon ectodermal defects cleft lippalate syndrome; ectodermal dysplasia; Hay Wells syndrome; Rapp Hodgkin syndrome; TP63

Indexed keywords

GENOMIC DNA; PROTEIN; PROTEIN TP63; UNCLASSIFIED DRUG;

ADULT; AEC SYNDROME; ALOPECIA; AMENORRHEA; ANHIDROSIS; ANKYLOBLEPHARON; ARTICLE; CASE REPORT; CLEFT LIP; CLINICAL EXAMINATION; CLINICAL FEATURE; CLINODACTYLY; CODON; DRY SKIN; EXTERNAL OTITIS; FEMALE; FOLLICULITIS; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE; HEARING LOSS; HETEROZYGOTE; HUMAN; HYPODONTIA; HYPOTRICHOSIS; MALE; MIDFACE HYPOPLASIA; MISSENSE MUTATION; NAIL DYSTROPHY; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; RAPP HODGKIN SYNDROME; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; ADULT; CLEFT LIP; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; EYE ABNORMALITIES; EYELIDS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 77955867266     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09859.x     Document Type: Article

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