Title

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

Document Type

Journal Article

Publication Date

2-2015

Journal

Pediatric Neurology

Volume

52

Issue

2

Inclusive Pages

239-244

DOI

10.1016/j.pediatrneurol.2014.09.003

Keywords

Cytoplasmic Dyneins--genetics; Lower Extremity Deformities, Congenital--complications; Muscular Atrophy, Spinal--genetics; Mutation--genetics

Peer Reviewed

1