Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene

MeSH terms

• 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics
• Humans
• Ichthyosiform Erythroderma, Congenital* / diagnosis
• Ichthyosiform Erythroderma, Congenital* / genetics
• Lipid Metabolism, Inborn Errors* / diagnosis
• Lipid Metabolism, Inborn Errors* / genetics
• Muscular Diseases* / diagnosis
• Muscular Diseases* / genetics
• Mutation