Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?
Ahmad
A
A
Amalfitano
A
A
Chen
Y T
YT
Kishnani
P S
PS
Miller
C
C
Kelley
R
R
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000378:metabolism; D002784:Cholesterol / Q000096:biosynthesis* / Q000097:blood*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D004485:Eczema / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008055:Lipids / Q000097:blood; D008831:Microcephaly / Q000235:genetics; D012867:Skin / Q000378:metabolism / Q000473:pathology; D013577:Syndrome
D008055:Lipids; D002784:Cholesterol