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

Authors

Jaya Punetha, George Washington University
Soledad Monges
Maria Emilia Franchi
Eric P. Hoffman, George Washington UniversityFollow
Sebahattin Cirak, George Washington University
Carolina Tesi-Rocha

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

APA Citation

Punetha, J., Monges, S., Franchi, M.E., Hoffman, E.P., Cirak, S. et al. (2015). Exome sequencing identifies DYNC1H1 variant associated with vertebral abnormality and spinal muscular atrophy with lower extremity predominance. Pediatric Neurology, 52(2), 239-244. doi: 10.1016/j.pediatrneurol.2014.09.003.

Peer Reviewed

1