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Article

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

Neurology - 5 May 2009

Crawford John R, Rood Brian R, Rossi Christopher T, Vezina Gilbert

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19414732
DOI: 10.1212/WNL.0b013e3181a413d6

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Related research

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Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome.PMID 19414732Read ↗

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

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

A novel PTCH1 mutation in a patient with Gorlin syndromeSemantic 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 ↗

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

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

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

Gorlin syndrome-induced pluripotent stem cells form medulloblastoma with loss of heterozygosity in PTCH1Semantic proximity Read ↗

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

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.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 ↗

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