Mutations in the human homologue of Drosophila patched (PTCH) have been identified in patients with nevoid basal cell carcinoma syndrome (NBCCS; also called Gorlin syndrome) as well as sporadic basal cell carcinomas and medulloblastomas. However, using PCR-SSCP analysis, mutations in PTCH have been
Germline mutations of thePTCHgene in Japanese patients with nevoid basal cell carcinoma syndrome
โ Scribed by Miki Tanioka; Katsu Takahashi; Tomohiro Kawabata; Shinji Kosugi; KenIchiro Murakami; Yoshiki Miyachi; Chikako Nishigori; Tadahiko Iizuka
- Publisher
- Springer-Verlag
- Year
- 2004
- Tongue
- English
- Weight
- 224 KB
- Volume
- 296
- Category
- Article
- ISSN
- 0340-3696
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## Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome). Patients display an array of developmental anomalies and are prone to develop
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 (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib