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Article

Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features.

Clinical and experimental dermatology - 1 Apr 2014

Valdivielso-Ramos M, Solera J, Mauleon C, Hernanz J M, Amiñoso C, Galiano S, De la Cueva P

Abstract excerpt

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Topics

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Share to Basal Cell Nevus Syndrome
Share to Child, Preschool
Share to Germ-Line Mutation
Share to Patched-1 Receptor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Cell Surface

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Source

Identifiers

PMID: 24635088
DOI: 10.1111/ced.12291

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features.PMID 24635088Read ↗

Novel PTCH1 Mutation in a Young Child With Gorlin Syndrome and Medulloblastoma.Semantic proximity Read ↗

Spectrum of PTCH1 Mutations in French Patients with Gorlin SyndromeSemantic proximity Read ↗

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

Novel PTCH1 mutation in Gorlin-Goltz syndrome potentially altered interactions with lipid bilayer.Semantic proximity Read ↗

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.Semantic proximity Read ↗

Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome.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 ↗

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.Semantic proximity Read ↗

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

Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation.Semantic proximity Read ↗

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

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