𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome

✍ Scribed by Joanna Liss; Krzysztof Lukaszuk; Anna Bruszczyńska; Zofia Szczerkowska; Krzysztof Rebala


Book ID
116473002
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
86 KB
Volume
90
Category
Article
ISSN
1556-5653

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


FIRST-TRIMESTER DIAGNOSIS OF SMITH–LEMLI
✍ P. SHARP; E. HAAN; J. M. FLETCHER; T. Y. KHONG; W. F. CAREY 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 227 KB 👁 2 views

We report here the prenatal diagnosis of Smith-Lemli-Opitz (SLO) syndrome in the first trimester by direct measurement of 7-dehydrocholesterol (7-DHC) in a chorionic villus (CV) biopsy. The proband was diagnosed clinically at birth and the diagnosis was confirmed biochemically by demonstrating eleva

Prenatal diagnosis of the RSH/Smith-Leml
✍ Kratz, Lisa E.; Kelley, Richard I. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 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