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Article

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.

Cell - 14 Jun 1996

Hahn H, Wicking C, Zaphiropoulous P G, Gailani M R, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden A B, Gillies S, Negus K, Smyth I, Pressman C, Leffell D J, Gerrard B, Goldstein A M, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale A E

Abstract excerpt

The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), pits of the palms and soles, jaw keratocysts, a variety of other tumors, and developmental abnormalities. NBCCS maps to chromosome 9q22.3. Familial and sporad...

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PMID: 8681379
DOI: 10.1016/s0092-8674(00)81268-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8681379-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.PMID 8681379Read ↗

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Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.Semantic proximity Read ↗

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Identification of Mutations in the Human PATCHED Gene in Sporadic Basal Cell Carcinomas and in Patients with the Basal Cell Nevus SyndromeSemantic proximity Read ↗

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