The nosology of the Smith-Lemli-Opitz Syndrome.
Penchaszadeh
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Department of Pediatrics, Beth Israel Medical Center, New York, New York 10003.
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics; D006801:Humans; D017880:Limb Deformities, Congenital; D010641:Phenotype; D013577:Syndrome