Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.
Badeloe
S
S
van Geel
M
M
Nagtzaam
I
I
Rubio-Gozalbo
M E
ME
Oei
R L
RL
Steijlen
P M
PM
van Steensel
M A M
MA
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
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D008049:Lipase