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Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype

✍ Scribed by Prasad, Chitra ;Marles, Sandra ;Prasad, Asuri N. ;Nikkel, Sarah ;Longstaffe, Sally ;Peabody, Deborah ;Eng, Barry ;Wright, Sarah ;Waye, John S. ;Nowaczyk, Małgorzata J.M.

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
229 KB
Volume
108
Category
Article
ISSN
0148-7299

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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

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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