✦ LIBER ✦

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

✍ Scribed by M. Witsch-Baumgartner; B.U. Fitzky; M. Ogorelkova; H.G. Kraft; F.F. Moebius; H. Glossmann; U. Seedorf; G. Gillessen-Kaesbach; G.F. Hoffmann; P. Clayton; R.I. Kelley; G. Utermann

Book ID: 117853159
Publisher: American Society of Human Genetics
Year: 2000
Tongue: English
Weight: 646 KB
Volume: 66
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302760

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

DHCR7 mutations and genotype–phenotype c

DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome

✍ E Ciara; MJM Nowaczyk; M Witsch-Baumgartner; E Malunowicz; E Popowska; A Jezela- 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 103 KB

Two novel mutations of the human Δ7-ster

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

✍ C. Patrono; C. Dionisi-Vici; A. Giannotti; B. Bembi; M.C. Digilio; C. Rizzo; C. 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 120 KB

Mutations in the Human Sterol Δ7-Reducta

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

✍ Christopher A. Wassif; Cheryl Maslen; Stivelia Kachilele-Linjewile; Don Lin; Lee 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 224 KB

Novel mutation in the ?7-dehydrocholeste

Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

✍ Evans, Timothy ;Poh, Alisa ;Webb, Charlotte ;Wainwright, Brandon ;Wicking, Carol 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 124 KB 👁 2 views

Novel mutation in the ?-sterol reductase

Novel mutation in the ?-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome

✍ Nezarati, Marjan M. ;Loeffler, Judith ;Yoon, Grace ;MacLaren, Linda ;Fung, Ernes 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 205 KB 👁 2 views

## Abstract The Smith‐Lemli‐Opitz syndrome (SLOS), or RSH syndrome, is a well‐characterized 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

Smith-Lemli-Opitz syndrome: evidence of

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

✍ Ambruzzi, M A; Zelante, L; Ciccodicola, A; De Brasi, D; Esposito, T; Rossi, M; P 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 336 KB