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

TitleGermline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
Publication TypeJournal Article
AuthorsWang, X, Charng, W-L, Chen, C-A, Rosenfeld, JA, Shamsi, AAl, Al-Gazali, L, McGuire, M, Mew, NAh, Arnold, GL, Qu, C, Ding, Y, Muzny, DM, Gibbs, RA, Eng, CM, Walkiewicz, M, Xia, F, Plon, SE, Lupski, JR, Schaaf, CP, Yang, Y
PubMed ID28288113
PubMed Central IDPMC5373987
Grant ListU01 HG007709 / HG / NHGRI NIH HHS / United States
U54 HD083092 / HD / NICHD NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States