CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome.
Caux
F
F
Selma
Z Ben
ZB
Laroche
L
L
Prud'homme
J F
JF
Fischer
J
J
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D000015:Abnormalities, Multiple / Q000235:genetics*; D004950:Esterases / Q000235:genetics* / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D008049:Lipase / Q000235:genetics* / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D013577:Syndrome
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D004950:Esterases; D008049:Lipase