A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.
Poll-The
B T
BT
Clinique de Génétique Médicale, INSERM U 12, Paris, France.
Maroteaux
P
P
Narcy
C
C
Quetin
P
P
Guesnu
M
M
Wanders
R J
RJ
Schutgens
R B
RB
Saudubray
J M
JM
D000217:Acyltransferases / Q000032:analysis; D002374:Catalase / Q000378:metabolism; D002806:Chondrodysplasia Punctata / Q000151:congenital* / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008830:Microbodies / Q000378:metabolism*; D010084:Oxidation-Reduction; D010831:Phytanic Acid / Q000378:metabolism; D012867:Skin / Q000378:metabolism
D010831:Phytanic Acid; D002374:Catalase; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase