A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome

European Journal of Dermatology

Volumn 19, Issue 3, 2009, Pages 262-263

  Nakamura, Motonobu ^a   Tokura, Yoshiki ^a  

^a UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PATCHED 1;

ADULT; ANAMNESIS; BASAL CELL CARCINOMA; BASAL CELL NEVUS SYNDROME; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LETTER; SINGLE NUCLEOTIDE POLYMORPHISM;

BASAL CELL NEVUS SYNDROME; FEMALE; FOOT; GENES, NEOPLASM; HAND; HUMANS; MUTATION, MISSENSE; RECEPTORS, CELL SURFACE; SKIN; SKIN NEOPLASMS; YOUNG ADULT;

EID: 66449094998     PISSN: 11671122     EISSN: 19524013     Source Type: Journal    
DOI: 10.1684/ejd.2009.0627     Document Type: Letter

References (6)

1. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine 1987; 66: 98-113. (Pubitemid 17059640)
2. Sterry W. Nonmelanoma skin cancer. Eur J Dermatol 2007; 17: 562-563
3. Hahn H, Wicking C, Zaphiropoulos PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma. Cell 1996; 85: 841-851 (Pubitemid 26192135)
4. Nakamura M, Ishikawa O. A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: a new type of hidrotic ectodermal dysplasia? Br J Dermatol 2007; 156: 777-779
5. Tanioka M, Takahashi K, Kawabata T, et al. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. Arch Dermatol Res 2005; 296: 303-308 (Pubitemid 40169522)
6. Stone DM, Hynes M, Armanini M, et al. The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature 1996; 384: 129-134 (Pubitemid 26386461)