Article
New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome.
The British journal of oral & maxillofacial surgery - 1 Jul 2009
Wang Wei, Wang Jinhui, Li Jichen, Mao Limin, Guo Fulin, Zhang Bin
Abstract excerpt
Naevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant mode characterised by a combination of developmental anomalies and a predisposition to form tumours. Our aim was to search for patched homologue 1 (PTHC1) mutations in a Chinese family with NBCCS. Mutation analysis of PTCH1 was done of all 10 members of this family by amplified polymerase chain...
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