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

• 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)
• Formato: Libro
• Publicado: BMC, 2017-07-01T00:00:00Z.
• Subjects: article
• Acceso en liña: 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...