Article
Wolfram syndrome type 1: a case series.
Orphanet journal of rare diseases - 16 Nov 2023
Du Danyang, Tuhuti Aihemaitijiang, Ma Yanrong, Abuduniyimu Munila, Li Suli, Ma Guoying, Zynat Jazyra, Guo Yanying
Abstract excerpt
BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of...
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