Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene.
Solomon
Crina
C
Bernier
Lise
L
Germain
Lucie
L
Dufour
Robert
R
Davignon
Jean
J
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D000328:Adult; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D004950:Esterases / Q000235:genetics*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008049:Lipase / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis; D008055:Lipids / Q000032:analysis*; D009154:Mutation; D012867:Skin / Q000737:chemistry*; D013577:Syndrome; D014430:Twins, Monozygotic
D008055:Lipids; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D004950:Esterases; D008049:Lipase