Smith-Lemli-Opitz syndrome
Definition:
References:
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[1]. Forbes D Porter, et al. Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2008 May;16(5):535-41. [Content Brief]
[2]. H Yu, et al. Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet. 2005 Nov;68(5):383-91. [Content Brief]
[3]. Lina S Correa-Cerro, et al. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2005 Feb;84(2):112-26. [Content Brief]