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Article

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.

PloS one - 1 Jan 2017

Onodera Shoko, Saito Akiko, Hasegawa Daigo, Morita Nana, Watanabe Katsuhito, Nomura Takeshi, Shibahara Takahiko, Ohba Shinsuke, Yamaguchi Akira, Azuma Toshifumi

Abstract excerpt

Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations. PTCH1 is a hedgehog (Hh) receptor as well as a repressor, mutation of which leads to constitutive activation of Hh pathway. Hh pathway encompasses a wide variety of cellular signaling cascades,...

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Source

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Identifiers

PMID: 28915250
DOI: 10.1371/journal.pone.0184702
PMCID: PMC5600381

Genes

PTCH1
PTCH2
BOC
SUFU

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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Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.PMID 28915250Read ↗

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Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological ResearchSemantic proximity Read ↗

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)Semantic proximity Read ↗

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.Semantic proximity Read ↗

A novel PTCH1 mutation in a patient with Gorlin syndromeSemantic proximity Read ↗

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