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Article

A novel PTCH1 mutation in a patient with Gorlin syndrome

13 Nov 2014

Abstract excerpt

Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer to analyze genes associated with known clinical phenotypes in an 11-year-old male with sporadic jaw keratocysts. A...

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Identifiers

PMID: 27081512
DOI: 10.1038/hgv.2014.22

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Related research

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Research trail→

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A novel PTCH1 mutation in a patient with Gorlin syndromePMID 27081512Read ↗

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Intronic splicing mutations in PTCH1 cause Gorlin syndrome.Semantic proximity Read ↗

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Development of a targeted gene panel for the diagnosis of Gorlin syndrome.Semantic proximity Read ↗

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

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

PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts.Semantic proximity Read ↗

Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.Semantic proximity Read ↗

Novel PTCH1 Mutation Causes Gorlin-Goltz Syndrome.Semantic proximity Read ↗

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