A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.
Dreßen M, Lahm H, Lahm A, Wolf K, Doppler S, Deutsch MA, Cleuziou J, Pabst von Ohain J, Schön P, Ewert P, Malcic I, Lange R, Krane M.
Dreßen M, et al. Among authors: doppler s.
Mol Genet Genomic Med. 2016 Jul 14;4(5):557-67. doi: 10.1002/mgg3.234. eCollection 2016 Sep.
Mol Genet Genomic Med. 2016.
PMID: 27652283
Free PMC article.