Rapp-Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay-Wells syndrome

American Journal of Medical Genetics

Volumn 140 A, Issue 8, 2006, Pages 887-891

  Kannu, Peter ^a,b,c   Savarirayan, Ravi ^a,b,c,d   Ozoemena, Linda ^e   White, Susan M ^a,b,c   McGrath, John A ^e  

^a Genetic Health Services Victoria   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Clefting; Gene mutation; Hair; p63; Skin

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR P63; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLEFT PALATE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; ECTODERMAL DYSPLASIA; FEEDING DISORDER; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; INFANT; P63 GENE; PRIORITY JOURNAL; RAPP HODGKIN ECTODERMAL DYSPLASIA; RESPIRATORY DISTRESS SYNDROME; TRANSACTIVATION;

ADULT; BIOLOGICAL MARKERS; CHIN; CLEFT PALATE; ECTODERMAL DYSPLASIA; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; MEMBRANE PROTEINS; NAILS, MALFORMED; NOSE; SYNDROME;

EID: 33645578950     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31187     Document Type: Article

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