Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
European journal of human genetics : EJHG - 1 Apr 2014
Doco-Fenzy Martine, Leroy Camille, Schneider Anouck, Petit Florence, Delrue Marie-Ange, Andrieux Joris, Perrin-Sabourin Laurence, Landais Emilie, Aboura Azzedine, Puechberty Jacques, Girard Manon, Tournaire Magali, Sanchez Elodie, Rooryck Caroline, Ameil Agnès, Goossens Michel, Jonveaux Philippe, Lefort Geneviève, Taine Laurence, Cailley Dorothée, Gaillard Dominique, Leheup Bruno, Sarda Pierre, Geneviève David
Abstract excerpt
Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and has been reported in about 13 patients in the literature often associated with a Prader-Willi-like phenotype. We report on five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual...
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