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Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis

✍ Scribed by Bzd�ch, Vladim�r ;Koz�k, Libor ;Francov�, Hana ;Beh�lov�, Darina


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
42 KB
Volume
95
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