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
Slavotinek, Anne A; Risolino, Maurizio M; Losa, Marta M; Cho, Megan T MT; Monaghan, Kristin G KG; Schneidman-Duhovny, Dina D; Parisotto, Sarah S; Herkert, Johanna C JC; Stegmann, Alexander P A APA; Miller, Kathryn K; Shur, Natasha N; Chui, Jacqueline J; Muller, Eric E; DeBrosse, Suzanne S; Szot, Justin O JO; Chapman, Gavin G; Pachter, Nicholas S NS; Winlaw, David S DS; Mendelsohn, Bryce A BA; Dalton, Joline J; Sarafoglou, Kyriakie K; Karachunski, Peter I PI; Lewis, Jane M JM; Pedro, Helio H; Dunwoodie, Sally L SL; Selleri, Licia L; Shieh, Joseph J