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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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| Gepubliceerd in: | BMC Med Genet |
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| Hoofdauteurs: | , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2017
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| Onderwerpen: | |
| Online toegang: | 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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