title: Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester.
authors.affiliation: Department of Clinical Chemistry, 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: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: P A
authors.initials: PA
authors.lastname: Farndon
authors.forename: C R
authors.initials: CR
authors.lastname: Kennedy
mesh_terms: D000217:Acyltransferases / Q000172:deficiency; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology; D002478:Cells, Cultured; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000201:enzymology; D005260:Female; D006801:Humans; D010955:Plasmalogens / Q000096:biosynthesis; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis
chemical_list: D010955:Plasmalogens; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase