Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome
β Scribed by Lowry, R. Brian ;Yong, Siu-Li ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1980
- Tongue
- English
- Weight
- 460 KB
- Volume
- 5
- Category
- Article
- ISSN
- 0148-7299
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## Abstract The urinary bile acids from four patients with SmithβLemliβOpitz (SLO) syndrome were analyzed by continuous flow fast atom bombardment mass spectrometry. Two types of abnormalities were noted: (1) a deficiency of normal bile acids (cholenoates) and (2) the presence of abnormal species p
## Abstract The SmithβLemliβOpitz syndrome (SLOS), or RSH syndrome, is a wellβcharacterized multiple congenital anomalies/mental retardation syndrome. The phenotype has been redefined to include mildly affected individuals with minor anomalies and developmental delay, and severe malformations with