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Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome

✍ Scribed by Nowaczyk, Ma?gorzata J.M. ;Garcia, Diana Martin ;Eng, Barry ;Waye, John S.


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
63 KB
Volume
102
Category
Article
ISSN
0148-7299

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The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS have a defect of cholesterol biosynthesis at the leve