Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome
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DOI: 10.1080/13816810.2022.2092759
Abstract: Dear Editor, Alström syndrome (ALMS, OMIM 203800) is a rare autosomal recessive disease with an estimated prevalence of 1–9 per 1,000,000 worldwide (1,2). It usually involves multiple organs and tissues including the eye, ear, kidney,… read more here.
Keywords: alms1 pathogenic; pathogenic variants; variants chinese; identification alms1 ... See more keywords