Article
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.
American journal of medical genetics. Part A - 1 Mar 2013
D'Angelo Carla Sustek, Kohl Ilana, Varela Monica Castro, de Castro Cláudia Irene Emílio, Kim Chong Ae, Bertola Débora Romeo, Lourenço Charles Marques, Perez Ana Beatriz Alvarez, Koiffmann Celia Priszkulnik
Abstract excerpt
Obesity is a major threat to public health worldwide, and there is now mounting evidence favoring a role for the central nervous system (CNS) in weight control. A causal relationship has been recognized in both monogenic (e.g., BDNF, TRKB, and SIM1 deficiencies) and syndromic forms of obesity [e.g., Prader-Willi syndrome (PWS)]. Syndromic obesity arising from chromosomal abnormalities, that typically also affect...
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