Article
A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.
European journal of medical genetics - 1 Jan 2000
Varela Monica C, Simões-Sato Alex Y, Kim Chong A, Bertola Débora R, De Castro Claudia I E, Koiffmann Celia P
Abstract excerpt
The association of obesity, phenotypic abnormalities and mental retardation characterizes syndromic obesity. Its most common form is the Prader-Willi syndrome (PWS-- neonatal hypotonia, poor sucking, delayed psychomotor development, hyperphagia, severe obesity, short stature, small hands and feet, hypogonadism, mild to moderate mental retardation and behavioral disorders). A PWS-like phenotype has been described...
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