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

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...

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Main Authors: Lin Yang (Author), Zixiu Li (Author), Mei Mei (Author), Xiaomei Fan (Author), Guodong Zhan (Author), Huijun Wang (Author), Guoying Huang (Author), Mingbang Wang (Author), Weidong Tian (Author), Wenhao Zhou (Author)
Format: Book
Published: BMC, 2017-07-01T00:00:00Z.
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