A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability

Journal Article published 6 Jan 2016 in European Journal of Human Genetics volume 24 issue 8 on pages 1117 to 1123

Authors: Irene Madrigal, Maria Isabel Alvarez-Mora, Jordi Rosell, Laia Rodríguez-Revenga, Olof Karlberg, Sascha Sauer, Ann-Christine Syvänen, Montserrat Mila