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Smith-Lemli-Opitz (RSH) syndrome bibliography

✍ Scribed by Opitz, John M. ;Penchaszadeh, Victor B. ;Holt, Mary C. ;Spano, LaVelle M.

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 400 KB
Volume: 28
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320280324

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📜 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

Prenatal death in Smith–Lemli–Opitz/RSH

Prenatal death in Smith–Lemli–Opitz/RSH syndrome

✍ Angelica R. Putnam; Juliana G. Szakacs; John M. Opitz; Janice L.B. Byrne 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 411 KB 👁 1 views

RSH (Smith-Lemli-Opitz) syndrome: ?Sever

RSH (Smith-Lemli-Opitz) syndrome: ?Severe? phenotype with ectrodactyly

✍ de Jong, Greetje; Kirby, Pat A.; Muller, Linnie M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

We describe the antenatal ultrasound findings of growth retardation, oligohydramnios, mesomelic limb shortness, and cardiac, renal, and hand defects in a fetus who was postnatally diagnosed as having RSH ("Smith-Lemli-Opitz") syndrome. An unusual finding was ectrodactyly of both hands.

Prenatal diagnosis of the RSH/Smith-Leml

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome

✍ 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

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

Smith-Lemli-Opitz syndrome

✍ Meinecke, Peter ;Blunck, Werner ;Rodewald, Alexander ;Opitz, John M. ;Reynolds, 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 2 views