Article
Diagnosis, treatment and genetic analysis of a case of Alstrom syndrome caused by compoud heterozygous mutation of ALMS1.
Yi chuan = Hereditas - 20 Dec 2022
Yang Hui-Jie, Li De, Bai Hui-Ling, Zhang Ming, Huang Jun, Yuan Xiao-Qing
Abstract excerpt
Alstrom syndrome is a rare autosomal recessive disorder disease caused by mutations in the ALMS1 gene, and its typical clinical manifestations include cone-rod retinal dystrophy, sensorineural deafness, obesity, insulin resistance, diabetes mellitus, hypertriglyceridemia, non-alcoholic fatty liver, dilated cardiomyopathy, and progressive hepatic and renal dysfunction. In this report, we followed up a young male...
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