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 r...
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BMC,
2017-07-01T00:00:00Z.
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A1234.567 |
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