Rhizomelic chondrodysplasia punctata--a new clinical variant.
Gray
R G
RG
Children's Hospital, Birmingham, UK.
Green
A
A
Chapman
S
S
McKeown
C
C
Schutgens
R B
RB
Wanders
R J
RJ
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
D010955:Plasmalogens; D010831:Phytanic Acid; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase