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

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 re...

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Bibliographic Details
Main Authors: Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou
Format: Article
Language:English
Published: BMC 2017-07-01
Series:BMC Medical Genetics
Subjects:
Alström syndrome
Whole genome sequencing
ALMS1 gene
Cone-rod dystrophy
Online Access:http://link.springer.com/article/10.1186/s12881-017-0418-3

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http://link.springer.com/article/10.1186/s12881-017-0418-3

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