## 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
Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals
β Scribed by Shanley, Susan ;Ratcliffe, John ;Hockey, Athel ;Haan, Eric ;Oley, Christine ;Ravine, David ;Martin, Nicole ;Wicking, Carol ;Chenevix-Trench, Georgia
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 947 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by developmental defects and tumorigenesis. The clinical manifestations of NBCCS have been reported in large epidemiological studies from the United States, the United Kingdom, and Australia, but not from an Asian country. We
## Abstract Nevoid basal cell carcinoma syndrome (NBCCS), an autosomal dominant disorder, is characterized by the development of numerous cutaneous basal cell carcinomas (BCCs). To better characterize this disorder, we examined the expression of matrix metalloproteinaseβ3 (MMPβ3; also known as stro
## Abstract ## BACKGROUND Patients with nevoid basal cell carcinoma syndrome (NBCCS) are believed to be predisposed to develop earlyβonset neoplasms including medulloblastomas (MB). The desmoplastic subtype of MB is associated most commonly with NBCCS. The goals of this study were to demonstrate t
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