Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.

1-Acylglycerol-3-Phosphate O-Acyltransferase Child Consanguinity Diagnosis, Differential Hepatomegaly/diagnosis Humans Ichthyosis/genetics Lipase/genetics,metabolism Lipid Metabolism, Inborn Errors/diagnosis,genetics Male Muscular Diseases/genetics Mutation/genetics Phenotype Syndrome

1-Acylglycerol-3-Phosphate O-Acyltransferase ABHD5 protein, human Lipase