Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?
Dept. of Medical Genetics, St. Mary's Hospital, Manchester, UK.
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Donnai
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Burn
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Hughes
D000015:Abnormalities, Multiple / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D010641:Phenotype; D013577:Syndrome