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			[Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholesterol reductase gene leading to deficient conversion of 7-dehydrocholesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malformation syndrome in a pathway that also involves cause and pathogenesis of desmosterolosis, two forms of the Conradi-H�nermann-Happle type chondodysplasia punctata and its mouse homologs, and the Greenberg 'moth-eaten' skeletal dysplasia and the CHILD syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
		
		
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