title: Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Schleinitz
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
authors.forename: Angélique
authors.initials: A
authors.lastname: Sanchez
authors.forename: Véronique
authors.initials: V
authors.lastname: Veit
authors.forename: Jean-Robert
authors.initials: JR
authors.lastname: Harle
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Pelissier
mesh_terms: 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
chemical_list: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D004950:Esterases; D008049:Lipase