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Article

Novel PTCH1 Mutation in a Young Child With Gorlin Syndrome and Medulloblastoma.

Pediatric blood & cancer - 1 Jun 2016

Gloude Nicholas J, Yoon Janet M, Crawford John R

Abstract excerpt

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Topics

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Share to Basal Cell Nevus Syndrome
Share to Cerebellar Neoplasms
Share to Child, Preschool
Share to Medulloblastoma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Patched-1 Receptor

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Source

Identifiers

PMID: 26840755
DOI: 10.1002/pbc.25913

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 PTCH1 Mutation in a Young Child With Gorlin Syndrome and Medulloblastoma.PMID 26840755Read ↗

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

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

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

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

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

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

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.Semantic proximity Read ↗

Gorlin-Like Phenotype in a Young Girl With a De Novo PTCH2 Variant Mutation of Uncertain Significance.Semantic proximity Read ↗

A case of Gorlin--Goltz syndrome without the characteristic physical features that was diagnosed after the development of a fifth cancerSemantic 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 ↗

First evidence of genotype–phenotype correlations in Gorlin syndromeSemantic proximity Read ↗

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