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

• Autores principales: Lin Yang (Autor), Zixiu Li (Autor), Mei Mei (Autor), Xiaomei Fan (Autor), Guodong Zhan (Autor), Huijun Wang (Autor), Guoying Huang (Autor), Mingbang Wang (Autor), Weidong Tian (Autor), Wenhao Zhou (Autor)
• Formato: Libro
• Publicado: BMC, 2017-07-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...