title: Rhizomelic chondrodysplasia punctata--a new clinical variant.
authors.affiliation: Children's Hospital, Birmingham, UK.
authors.forename: R G
authors.initials: RG
authors.lastname: Gray
authors.forename: A
authors.initials: A
authors.lastname: Green
authors.forename: S
authors.initials: S
authors.lastname: Chapman
authors.forename: C
authors.initials: C
authors.lastname: McKeown
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000217:Acyltransferases / Q000097:blood / Q000172:deficiency; D001792:Blood Platelets / Q000201:enzymology; D002114:Calcinosis / Q000473:pathology; D002806:Chondrodysplasia Punctata / Q000178:diet therapy / Q000473:pathology*; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D010831:Phytanic Acid / Q000097:blood; D010955:Plasmalogens / Q000097:blood
chemical_list: D010955:Plasmalogens; D010831:Phytanic Acid; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase