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Article

A missense mutation in <i>PTCH2</i> underlies dominantly inherited NBCCS in a Chinese family

19 Feb 2008

Abstract excerpt

BACKGROUND: Naevoid basal cell carcinoma syndrome (NBCCS) is a pleiotropic, autosomal dominant disease. Growing evidence suggests that the disorder may result from mutations in genes of the Sonic hedgehog (Shh) signalling pathway. OBJECTIVE: To investigate the pathogenic gene in a Chinese Han family with NBCCS. METHODS: Mapping and mutation screening were used to investigate the candidate genes SHH, PTCH, PTCH2...

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PMID: 18285427
DOI: 10.1136/jmg.2007.055343

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