title: Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.
authors.forename: S
authors.initials: S
authors.lastname: Badeloe
authors.forename: M
authors.initials: M
authors.lastname: van Geel
authors.forename: I
authors.initials: I
authors.lastname: Nagtzaam
authors.forename: M E
authors.initials: ME
authors.lastname: Rubio-Gozalbo
authors.forename: R L
authors.initials: RL
authors.lastname: Oei
authors.forename: P M
authors.initials: PM
authors.lastname: Steijlen
authors.forename: M A M
authors.initials: MA
authors.lastname: van Steensel
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D002648:Child; D003241:Consanguinity; D003937:Diagnosis, Differential; D006529:Hepatomegaly / Q000175:diagnosis; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008049:Lipase / Q000235:genetics / Q000378:metabolism*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome
chemical_list: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D008049:Lipase