Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester.
Gray
R G
RG
Department of Clinical Chemistry, Children's Hospital, Birmingham, UK.
Green
A
A
Schutgens
R B
RB
Wanders
R J
RJ
Farndon
P A
PA
Kennedy
C R
CR
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
D010955:Plasmalogens; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase