Article
A Wolfram-like syndrome family: Case report.
European journal of ophthalmology - 1 Jul 2024
Li Siying, Li Xiaoxin, Qu Jinfeng
Abstract excerpt
BACKGROUND: Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome. CASE PRESENTATION: We reported a case of a 10-year-old boy and his family members who initially experienced hearing impairment (HI), followed by optic atrophy. Genetic testing...
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