De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects



Slavotinek, Anne and Risolino, Maurizio and Losa, Marta and Cho, Megan T and Monaghan, Kristin G. and Schneidman-Duhovny, Dina and Parisotto, Sarah and Herkert, Johanna C and Stegmann, Alexander P.A. and Miller, Kathryn and Shur, Natasha and Chui, Jacqueline and Muller, Eric and DeBrosse, Suzanne and Szot, Justin O and Chapman, Gavin and Pachter, Nicholas S and Winlaw, David S and Mendelsohn, Bryce A. and Dalton, Joline and Sarafoglou, Kyriakie and Karachunski, Peter I. and Lewis, Jane M and Pedro, Helio and Dunwoodie, Sally L and Selleri, Licia and Shieh, Joseph (2017) De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Human Molecular Genetics, 26 (24). pp.4849-4860. ISSN 0964-6906 (Not OA)

Link to published document: http://doi.org/10.1093/hmg/ddx363

Abstract

Metadata

Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 22 Oct 2017 22:46
Last Modified: 20 Aug 2018 01:38