Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome

Clinical and Experimental Dermatology

Volumn 25, Issue 5, 2000, Pages 441-443

  Wessagowit, V ^a,b   Mellerio, J E ^a,b,c   Pembroke, A C ^a,b,d   McGrath, J A ^a,b,e  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c KING S COLLEGE HOSPITAL   (United Kingdom)

^d Bromley Hospitals NHS Trust   (United Kingdom)

^e ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLEFT LIP PALATE; CLINICAL FEATURE; CONTROLLED STUDY; DNA BINDING; ECTODERMAL DYSPLASIA; ECTRODACTYLY; EXON; FEMALE; GENE LOCATION; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; FEMALE; FINGERS; GENES, P53; GERM-LINE MUTATION; HUMANS; MUTATION, MISSENSE; SYNDROME; TOES;

EID: 0033769921     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.2000.00683.x     Document Type: Article

References (10)

1. The EEC syndrome: A literature study
2. Regulation of organogenesis: Common molecular mechanisms regulating the development of teeth and other organs
3. p63 is a p53 homologue required for limb and epidermal morphogenesis
4. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
5. The transcriptional activities of p53 and its homologue p51/p63: Similarities and differences
6. p63, a p53 homolog at 3p27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities
7. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
8. Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19
9. Preimplantation genetic diagnosis of severe inherited skin diseases