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Article

[PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome].

No to hattatsu = Brain and development - 1 Jul 2009

Endo Mamiko, Fujii Katsunori, Miyashita Toshiyuki, Uchikawa Hideki, Tanabe Ryo, Sugita Katsuo, Arai Hidee, Kohno Yoichi

Abstract excerpt

Gorlin syndrome is an autosomal dominant disorder characterized by congenital anomalies and tumorigenesis. The gene responsible for Gorlin syndrome is PTCH1, a human homologue of the Drosophila segment polarity gene, patched. We analysed the PTCH1 gene in 25 patients in 22 families with Gorlin sy...

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Source

Identifiers

PMID: 19618880

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19618880-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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[PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome].PMID 19618880Read ↗

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Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features.Semantic proximity Read ↗

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Genetic Analysis of Gorlin Syndrome Using a Multiplex PCR Gene Panel, and Its Potential Clinical Utility for Liquid BiopsySemantic proximity Read ↗

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.Semantic proximity Read ↗

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