Title

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

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.

Peer Reviewed

1

Open Access

1