Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Por Wang, Xia, Charng, Wu-Lin, Chen, Chun-An, Rosenfeld, Jill A., Shamsi, Aisha Al, Al-Gazali, Lihadh, McGuire, Marianne, Mew, Nicholas Ah, Arnold, Georgianne L., Qu, Chunjing, Ding, Yan, Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Walkiewicz, Magdalena, Xia, Fan, Plon, Sharon E., Lupski, James R., Schaaf, Christian P., Yang, Yaping
Publicado no Nat Genet (2017)