title: Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?
authors.forename: A
authors.initials: A
authors.lastname: Ahmad
authors.forename: A
authors.initials: A
authors.lastname: Amalfitano
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
authors.forename: P S
authors.initials: PS
authors.lastname: Kishnani
authors.forename: C
authors.initials: C
authors.lastname: Miller
authors.forename: R
authors.initials: R
authors.lastname: Kelley
mesh_terms: 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
chemical_list: D008055:Lipids; D002784:Cholesterol