[Basal cell nevus syndrome with Duchenne muscular dystrophy: a case report].

Abstract excerpt

Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominant genetic disease. It is thought to be caused by a mutation in the PTCH1 gene, and its incidence is 1/57 000 to 1/256 000. The case of a 7-year-old patient with BCNS and Duchenne muscular dystrophy was reported in this paper. 基底细胞痣综合征也称Gorlin-Goltz综合征，是一种罕见的常染色体显性遗传病。目前认为基底细胞痣综合征是PTCH1基因突变所致，发病率为1/256 000~1/57...

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