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

作者:Dressen Martina; Lahm Harald; Lahm Armin; Wolf Klaudia; Doppler Stefanie; Deutsch Marcus Andre; Cleuziou Julie; von Ohain Jelena Pabst; Schoen Patric; Ewert Peter; Malcic Ivan; Lange Ruediger; Krane Markus
来源:MOLECULAR GENETICS %26 GENOMIC MEDICINE, 2016, 4(5): 557-567.
DOI:10.1002/mgg3.234