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

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 renal fail...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Yang, Lin, Li, Zixiu, Mei, Mei, Fan, Xiaomei, Zhan, Guodong, Wang, Huijun, Huang, Guoying, Wang, Mingbang, Tian, Weidong, Zhou, Wenhao
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5518093/
https://ncbi.nlm.nih.gov/pubmed/28724398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0418-3
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