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Article

Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: possible linkage to WNT.

International journal of molecular medicine - 1 May 2006

Musani Vesna, Gorry Philippe, Basta-Juzbasic Aleksandra, Stipic Tonci, Miklic Pavle, Levanat Sonja

Abstract excerpt

The novel PTCH mutation and clinical manifestations within Gorlin syndrome family links PTCH haploinsufficiency and aberrant activation of the Wnt pathway. We report a family case with Gorlin syndrome, characterized by the usual phenotype features such as widespread basocellular tumors and craniofacial and bone malformations, but also including a less common appearance of craniopharyngioma. These clinical...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16596257

Genes

SHH
SMO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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