Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome
β Scribed by Y. -W. Lee; B. H. Roh; C. -S. Ki; Y. L. Park; H. B. Shin; Y. K. Lee; T. -Y. Choi; K. U. Whang
- Book ID
- 108694094
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 610 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0307-6938
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The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant genetic disease characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws, palmar and plantal pits, skeletal abnormalities, and calcification of the falx cerebri. The gene responsible for this syndro
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by multiple basal cell carcinomas, palmar and plantar pitting, odontogenic keratocysts of the jaws and bilamellar calcification of the falx. Mutations in the PTCH gene are responsible for NBCCS but most stud