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Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities

✍ Scribed by Markku J. Nissinen; Helena Gylling; Markus Kaski; Paavo Tammisto; Suvi Mieskonen; Jaakko Ignatius; Tatu A. Miettinen


Book ID
114486381
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
105 KB
Volume
136
Category
Article
ISSN
1532-6543

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Variant RSH/Smith-Lemli-Opitz syndrome w
✍ Anderson, Arne J.; Stephan, Mark J.; Walker, William O.; Kelley, Richard I. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 35 KB πŸ‘ 3 views

The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies. Recently, biochemical evidence of an inborn error of cho