RSH (so-called Smith-Lemli-Opitz) syndrome.
作者： John M. Opitz
DOI: 10.1097/00008480-199908000-00015
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摘要: Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations 7-dehydrocholestrol reductase gene leading to deficient conversion 7-dehydrochotesterol cholesterol, RSH (so-called Smith-Lemli-Opitz) syndrome has become paradigma
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