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- W2016154237 abstract "SLOS is caused by an inborn error of cholesterol biosynthesis. Affected patients have growth and developmental retardation, congenital anomalies, and a characteristic facial appearance. Prior to discovery of the biochemical defect, diagnosis was based on clinical examination alone. Confirmation of the clinical diagnosis can now be accomplished by demonstration of the characteristic abnormal sterol pattern in plasma or other tissues." @default.
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- W2016154237 date "1996-04-01" @default.
- W2016154237 modified "2023-10-18" @default.
- W2016154237 title "CORRELATION OF CLINICAL PHENOTYPE AND BIOCHEMICAL DEFECT IN SMITH-LEMLI-OPITZ SYNDROME (SLOS). • 480" @default.
- W2016154237 doi "https://doi.org/10.1203/00006450-199604001-00500" @default.
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