title: [Rhizomelic chondrodysplasia punctata].
authors.forename: M
authors.initials: M
authors.lastname: Masuno
mesh_terms: D000217:Acyltransferases / Q000172:deficiency / Q000235:genetics; D019883:Alkyl and Aryl Transferases / Q000172:deficiency / Q000235:genetics; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000145:classification / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D000074437:Peroxisomal Targeting Signal 2 Receptor; D020675:Peroxisomes / Q000201:enzymology; D011379:Prognosis; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D013577:Syndrome
chemical_list: D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase; D019883:Alkyl and Aryl Transferases; C019654:alkylglycerone-phosphate synthase