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Article

A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome.

Biochemical and biophysical research communications - 3 Jun 2011

Zhang Tingting, Chen Mingjie, Lü Yan, Xing Qinghe, Chen Wantao

Abstract excerpt

OBJECTIVE: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a predisposition to neoplasms and developmental abnormalities. Mutation of the PTCH1 gene, which is considered to be responsible for NBCCS, was investigated in a Chinese NBCCS family in this study. METHODS: Genomic DNA was isolated from blood samples of all eight living individuals in this family. Mutation...

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Share to Basal Cell Nevus Syndrome
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Source

Identifiers

PMID: 21514272
DOI: 10.1016/j.bbrc.2011.04.047

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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