Farber disease in a patient from China.

Abstract excerpt

Farber disease (FD) is a rare lysosomal storage disorder caused by mutation of the ASAH1 gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. Here we report a 25-year-old female FD patient with rare osteolytic changes of bilateral hands and toes. Genetic analysis revealed novel compound heterozygous mutations in the ASAH1 gene (c.427T>G and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to China
• Share to Genetic Predisposition to Disease