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

Xia Wang, Wu Lin Charng, Chun An Chen, Jill A. Rosenfeld, Aisha Al Shamsi, Lihadh Al-Gazali, Marianne McGuire, Nicholas Ah Mew, Georgianne L. Arnold, Chunjing Qu, Yan Ding, Donna M. Muzny, Richard A. Gibbs, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Sharon E. Plon, James R. Lupski, Christian P. Schaaf, Yaping Yang

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40 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology