Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

• Váldodahkkit: Lin Yang (Dahkki), Zixiu Li (Dahkki), Mei Mei (Dahkki), Xiaomei Fan (Dahkki), Guodong Zhan (Dahkki), Huijun Wang (Dahkki), Guoying Huang (Dahkki), Mingbang Wang (Dahkki), Weidong Tian (Dahkki), Wenhao Zhou (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2017-07-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and r...