A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome [1]

Clinical Genetics

Volumn 60, Issue 4, 2001, Pages 314-315

  Kosaki, Rika ^a,b   Ohashi, Hirofumi ^a   Yoshihashi, Hiroshi ^b   Suzuki, Taichi ^b   Kosaki, Kenjiro ^b  

^a SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^b KEIO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN P63;

AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 3Q; CLEFT LIP; CLEFT LIP PALATE; COMORBIDITY; CONTROLLED STUDY; CRYSTALLOGRAPHY; DNA BINDING; ECTODERMAL DYSPLASIA; ECTRODACTYLY; ECTRODACTYLY ECTODERMAL DYSPLASIA CLEFTING SYNDROME; GENE MUTATION; GENETIC SCREENING; HUMAN; LETTER; MEDICAL DOCUMENTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CLEFT LIP; CLEFT PALATE; DNA-BINDING PROTEINS; ECTODERMAL DYSPLASIA; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENES, TUMOR SUPPRESSOR; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; MUTATION, MISSENSE; PHOSPHOPROTEINS; POLYMERASE CHAIN REACTION; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 0034749187     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600411.x     Document Type: Letter

References (6)

1. Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: Dominant inheritance and variable expression
2. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
3. Split hand/split-foot malformation is caused by mutations in the p63 gene on 3q27
4. Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome
5. Crystal structure of a p53 tumor suppressor-DNA complex: Understanding tumorigenic mutations
6. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63