Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.
Schleinitz
Nicolas
N
Fischer
Judith
J
Sanchez
Angélique
A
Veit
Véronique
V
Harle
Jean-Robert
JR
Pelissier
Jean-François
JF
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D000328:Adult; D000367:Age Factors; D001707:Biopsy, Needle; D004950:Esterases / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007150:Immunohistochemistry; D008049:Lipase / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D008297:Male; D009154:Mutation; D010375:Pedigree; D012720:Severity of Illness Index; D013577:Syndrome
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D004950:Esterases; D008049:Lipase