✦ LIBER ✦

Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome

✍ Scribed by Diaz-Stransky, Andrea; Tierney, Elaine

Book ID: 118751251
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 152 KB
Volume: 160C
Category: Article
ISSN: 1552-4868
DOI: 10.1002/ajmg.c.31342

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Behavioral phenotype of RSH/Smith-Lemli-

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome

✍ Tierney, Elaine ;Nwokoro, Ngozi A. ;Kelley, Richard I. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 2 views

Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol biosynthesis. The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstra

Nosology of Smith-Lemli-Opitz syndrome

✍ Thompson, Elizabeth ;Baraitser, Michael ;Opitz, John M. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB 👁 2 views

It is important that clinical geneticists, where possible, categorise rare autosomal recessive disorders into discrete entities. This has become especially important for those who manage syndrome databases so that individual case reports can be correctly added to the existing literature or be entere

Behavior phenotype in the RSH/Smith-Leml

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

✍ Tierney, Elaine ;Nwokoro, Ngozi A. ;Porter, Forbes D. ;Freund, Lisa S. ;Ghuman, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 124 KB 👁 2 views

The behavior phenotype of Smith-Lemli-Opitz syndrome (SLOS) was studied by assessing behavior, social, and communication abilities, sensory hyperreactivity, and the deficits associated with autistic disorder. Fifty-six SLOS subjects, age 0.3 to 32.3 years, were evaluated by multiple age-dependent qu

Biochemical variants of Smith-Lemli-Opit

Biochemical variants of Smith-Lemli-Opitz syndrome

✍ Neklason, Deborah W.; Andrews, Katy M.; Kelley, Richard I.; Metherall, James E. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 2 views

Smith-Lemli-Opitz (SLO or RSH) syndrome is characterized by multiple congenital anomalies, mental retardation, and defective growth; it results from an inherited defect in the biosynthesis of cholesterol. Patients have elevated plasma concentrations of 7-dehydrocholesterol, the immediate biosyntheti

Prenatal diagnosis of Smith–Lemli–Opitz

Prenatal diagnosis of Smith–Lemli–Opitz syndrome

✍ Mira B. Irons; G. S. Tint 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 2 views

Prenatal diagnosis of Smith-Lemli-Opitz

Prenatal diagnosis of Smith-Lemli-Opitz syndrome

✍ Stewart, Fiona J. ;Nevin, Norman C. ;Dornan, James C. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB 👁 2 views