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Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome

โœ Scribed by Mary F. Lachman; Yvonne Wright; David A. H. Whiteman; Victor Herson; Robert M. Greenstein


Book ID
115090156
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
617 KB
Volume
39
Category
Article
ISSN
0009-9163

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Smith-Lemli-Opitz syndrome: phenotypic e
โœ Nowaczyk, Malgorzata J.M.; Whelan, Donald T.; Hill, Robert E. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 34 KB ๐Ÿ‘ 2 views

Smith-Lemli-Opitz syndrome (SLO) is caused by inherited enzymatic deficiency of 7-dehydrocholesterol-โŒฌ 7 -reductase and resultant cholesterol deficiency. It comprises a characteristic combination of facial features, malformations, and mental retardation. We report on three related patients (two brot