Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity | Zendy

Nina De Rocker | Zendy; Sarah Vergult | Zendy; David A. Koolen | Zendy; Eva Jacobs | Zendy; Alexander Hoischen | Zendy; Susan Zeesman | Zendy; Birgitte Bang | Zendy; Frédérique Béna | Zendy; Nele Bockaert | Zendy; Ernie M.H.F. Bongers | Zendy; Thomy de Ravel | Zendy; Koenraad Devriendt | Zendy; Sabrina Giglio | Zendy; Laurence Faivre | Zendy; Shelagh Joss | Zendy; Saskia M. Maas | Zendy; Nathalie Marle | Zendy; Francesca Novara | Zendy; Małgorzata J.M. Nowaczyk | Zendy; Hilde Peeters | Zendy; Abeltje M. Polstra | Zendy; Filip Roelens | Zendy; Carla Rosenberg | Zendy; Julien Théve | Zendy; Zeynep Tümer | Zendy; Suzanne Vanhauwaert | Zendy; Konstantinos Varvagiannis | Zendy; Andy Willaert | Zendy; Marjolein H. Willemsen | Zendy; Marjolaine Willems | Zendy; Orsetta Zuffardi | Zendy; Paul Coucke | Zendy; Frank Speleman | Zendy; Evan E. Eichler | Zendy; Tjitske Kleefstra | Zendy; Björn Menten | Zendy

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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Author(s) -

Nina De Rocker,

Sarah Vergult,

David A. Koolen,

Eva Jacobs,

Alexander Hoischen,

Susan Zeesman,

Birgitte Bang,

Frédérique Béna,

Nele Bockaert,

Ernie M.H.F. Bongers,

Thomy de Ravel,

Koenraad Devriendt,

Sabrina Giglio,

Laurence Faivre,

Shelagh Joss,

Saskia M. Maas,

Nathalie Marle,

Francesca Novara,

Małgorzata J.M. Nowaczyk,

Hilde Peeters,

Abeltje M. Polstra,

Filip Roelens,

Carla Rosenberg,

Julien Théve,

Zeynep Tümer,

Suzanne Vanhauwaert,

Konstantinos Varvagiannis,

Andy Willaert,

Marjolein H. Willemsen,

Marjolaine Willems,

Orsetta Zuffardi,

Paul Coucke,

Frank Speleman,

Evan E. Eichler,

Tjitske Kleefstra,

Björn Menten

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2014.124

Subject(s) - haploinsufficiency , gene duplication , intellectual disability , zebrafish , genetics , biology , copy number variation , gene , phenotype , medicine , genome

Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far no unequivocal data have confirmed this hypothesis.

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