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

Authors

Xia Wang
Wu-Lin Charng
Chun-An Chen
Jill A Rosenfeld
Aisha Al Shamsi
Lihadh Al-Gazali
Marianne McGuire
Nicholas Ah Mew, George Washington University
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

Document Type

Journal Article

Publication Date

4-1-2017

Journal

Nature Genetics

Volume

49

Issue

4

Inclusive Pages

613-617

DOI

10.1038/ng.3815

Keywords

Abnormalities, Multiple; Animals; Bone Diseases, Developmental; Cell Line; Chromosome Disorders; Craniofacial Abnormalities; Feeding and Eating Disorders; Female; Fusion Proteins, bcr-abl; Germ-Line Mutation; HEK293 Cells; Heart Defects, Congenital; Humans; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Limb Deformities, Congenital; Male; Mice; Mice, Knockout; Philadelphia Chromosome; Phosphorylation; Signal Transduction

Comments

This is an open access PubMed Central article.

APA Citation

Wang, X., Charng, W., Chen, C., Rosenfeld, J., Al Shamsi, A., Al-Gazali, L., McGuire, M., Mew, N., Arnold, G., Qu, C., Ding, Y., Muzny, D., Gibbs, R., Eng, C., Walkiewicz, M., Xia, F., Plon, S., Lupski, J., Schaaf, C., & Yang, Y. (2017). Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.. Nature Genetics, 49 (4). http://dx.doi.org/10.1038/ng.3815

Peer Reviewed

1

Open Access

1