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Article

NBCCS secondary to an interstitial chromosome 9q deletion.

Clinical and experimental dermatology - 1 Sept 2004

Haniffa M A, Leech S N, Lynch S A, Simpson N B

Abstract excerpt

Naevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome is a rare autosomal dominant cancer disorder. The Gorlin's gene, Patched 1 (PTCH1), maps to Chromosome 9q. Germline mutations of PTCH1 occur in patients with NBCCS. The subsequent loss of the remaining allele results in cancer formation. We present a patient with NBCCS and additional phenotypic features including severe developmental delay, short...

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Share to Basal Cell Nevus Syndrome
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Source

Identifiers

PMID: 15347344
DOI: 10.1111/j.1365-2230.2004.01590.x

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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