Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
About this item
Full title
Author / Creator
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 and Geneviève, David
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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 prese...
Alternative Titles
Full title
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3953915
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3953915
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2013.189
