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Article

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

Journal of human genetics - 1 Jul 2009

Takahashi Chiaki, Kanazawa Nozomi, Yoshikawa Yoshie, Yoshikawa Reigetsu, Saitoh Yuko, Chiyo Hideaki, Tanizawa Takakuni, Hashimoto-Tamaoki Tomoko, Nakano Yoshiro

Abstract excerpt

Basal cell nevus syndrome (BCNS or Gorlin syndrome, OMIM: 109400) is a rare autosomal dominant disorder with high penetrance. It is characterized by developmental anomalies and predisposition to tumors (for example, basal cell carcinoma (BCC) and medulloblastoma). PTCH1, the human homolog of the...

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Source

Identifiers

PMID: 19557015
DOI: 10.1038/jhg.2009.55

Genes

PTCH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19557015-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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