A novel de novo TBX5 mutation in a patient with Holt–Oram syndrome leading to a dramatically reduced biological function

Por Dreßen, Martina, Lahm, Harald, Lahm, Armin, Wolf, Klaudia, Doppler, Stefanie, Deutsch, Marcus‐André, Cleuziou, Julie, Pabst von Ohain, Jelena, Schön, Patric, Ewert, Peter, Malcic, Ivan, Lange, Rüdiger, Krane, Markus
Publicado no Mol Genet Genomic Med (2016)