Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
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
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12020282
Abstract: Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein… read more here.
Keywords: pathogenic variants; alms1 pathogenic; analysis; prevalent alms1 ... See more keywords