Smith-Lemli-Opitz syndrome: further delineation of the phenotype.
Worthington
S
S
Department of Clinical Genetics, Sydney Children's Hospital, NSW, Australia.
Goldblatt
J
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000311:Adrenal Glands / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D010641:Phenotype; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*
D002784:Cholesterol