Autor: Chun-Qiong Ran
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Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome
BackgroundAlström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including cone-rod dystrophy, sensorineural hea…