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- W2897645623 abstract "Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as new cases of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5. According to the the American College of Medical Genetics and Genomics, this variant is categorized as a pathogenic variant." @default.
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- W2897645623 date "2018-11-01" @default.
- W2897645623 modified "2023-09-27" @default.
- W2897645623 title "A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene" @default.
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- W2897645623 doi "https://doi.org/10.29252/.22.6.415" @default.
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