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Article

A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome.

Chinese medical journal - 20 Jan 2008

Lü Yan, Zhu Han-guang, Ye Wei-min, Zhang Ming-bin, He Di, Chen Wan-tao

Abstract excerpt

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation. Mutation of patched gene (PTCH), considered the molecular defect of NBCCS, in a Chinese NBCCS family was investigated in this study. METHODS: Genomic DNA was isolated from blood samples of all 12 members of this family. The...

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PMID: 18272036

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

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