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Article

Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development.

The Journal of pathology - 1 Jan 2006

Tostar Ulrica, Malm Carl Johan, Meis-Kindblom Jeanne M, Kindblom Lars-Gunnar, Toftgård Rune, Undén Anne Birgitte

Abstract excerpt

The naevoid basal cell carcinoma syndrome (NBCCS) is caused by mutations in the hedgehog receptor PTCH gene. It is characterized by developmental defects and a predisposition to the development of certain tumours, such as basal cell carcinoma, medulloblastoma and meningioma, and potentially fetal rhabdomyomas and embryonal rhabdomyosarcomas. This study aimed to analyse PTCH status in an NBCCS patient with fetal...

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Share to Carcinoma, Basal Cell
Share to Genes, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Loss of Heterozygosity

Share to Patched-1 Receptor

Share to Patched Receptors

Share to Rhabdomyosarcoma

Share to Rhabdomyosarcoma, Embryonal

Share to RNA, Neoplasm

Source

Identifiers

PMID: 16294371
DOI: 10.1002/path.1882

Genes

SUFU
GLI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development.PMID 16294371Read ↗

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