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, Risolino, Maurizio, Losa, Marta, Cho, Megan T., Monaghan, Kristin G., Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C., Stegmann, Alexander P.A., Miller, Kathryn, ShurLanguage:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddx363
Date:
September, 2017
File:
PDF, 21.19 MB
english, 2017