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Article

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

American journal of medical genetics. Part A - 1 Dec 2006

Wilson Louise C, Ajayi-Obe Ekundayo, Bernhard Birgitta, Maas Saskia M

Abstract excerpt

We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the...

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Identifiers

PMID: 16906569
DOI: 10.1002/ajmg.a.31374

Genes

SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16906569-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.PMID 16906569Read ↗

Linear basal cell nevus with a novel mosaic PTCH1 mutation.Semantic proximity Read ↗

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Involvement of patched (PTCH) gene in Gorlin syndrome and related disorders: three family cases.Semantic proximity Read ↗

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The Hedgehog signalling pathway and cancer.Semantic proximity Read ↗

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