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Article

Analysis of the PTCH coding region in human rhabdomyosarcoma.

Human mutation - 1 Sept 2002

Calzada-Wack Julia, Schnitzbauer Udo, Walch Axel, Wurster Karl-Heinz, Kappler Roland, Nathrath Michaela, Hahn Heidi

Abstract excerpt

Inherited mutations of the human tumor suppressor gene Patched (PTCH) lead to an autosomal dominant disorder known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS). The syndrome is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Tumors in patients with NBCCS include basal cell carcinoma, medulloblastoma, fibroma and rhabdomyosarcoma (RMS). RMS are also present...

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Source

Identifiers

PMID: 12204003
DOI: 10.1002/humu.9056

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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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Analysis of the PTCH coding region in human rhabdomyosarcoma.PMID 12204003Read ↗

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