𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II

✍ Scribed by Johnson, Judith A. ;Aughton, David J. ;Comstock, Christine H. ;von Oeyen, Paul T. ;Higgins, James V. ;Schulz, Rex


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
385 KB
Volume
49
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Prenatal diagnosis of Smith-Lemli-Opitz
✍ Stewart, Fiona J. ;Nevin, Norman C. ;Dornan, James C. πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 135 KB πŸ‘ 2 views
Prenatal diagnosis of the RSH/Smith-Leml
✍ Kratz, Lisa E.; Kelley, Richard I. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 34 KB πŸ‘ 2 views

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