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Article

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

Human mutation - 1 Nov 2004

Savino Maria, d'Apolito Maria, Formica Vincenza, Baorda Filomena, Mari Francesca, Renieri Alessandra, Carabba Enrico, Tarantino Enrico, Andreucci Elena, Belli Serena, Lo Muzio Lorenzo, Dallapiccola Bruno, Zelante Leopoldo, Savoia Anna

Abstract excerpt

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 syndrome is the PTCH tumor suppressor gene encoding for the sonic hedgehog receptor. In this paper, we report thirteen...

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PMID: 15459969
DOI: 10.1002/humu.9289

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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