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KMID : 0381120100320010009
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Genes and Genomics
2010 Volume.32 No. 1 p.9 ~ p.12
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The Smith-Lemli-Opitz syndrome with a G303R/R352W mutation: in an extremely irritable child responsive to cholesterol supplementation
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Lee Hye-Jin
Lee Ji-Hyuk
Lee Jong-Seung
Choe Yon-Ho
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Abstract
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KEYWORD
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Cholesterol therapy, DHCR7, Mutation analysis, Smith-Lemli-Opitz syndrome
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