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Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-878436

RESUMO

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.


Assuntos
Criança , Humanos , Síndrome do Nevo Basocelular/diagnóstico , Distrofia Muscular de Duchenne , Mutação
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