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chanarin-dorfman syndrome
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ABHD5
A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome
[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]