Somatic Mosaicism Due to a Reversion Variant Causing Hemi-atrophy: A Novel Variant of Dystrophinopathy.

Authors

Jaya Punetha, George Washington University
Simin Mansoor
Tulio E Bertorini
Akanchha Kesari
Kristy J BrownFollow
Eric P Hoffman, George Washington UniversityFollow

Document Type

Journal Article

Publication Date

10-1-2016

Journal

European Journal of Human Genetics : EJHG

Volume

24

Issue

10

DOI

10.1038/ejhg.2016.22

Keywords

Creatine Kinase; Dystrophin; Exons; Gene Duplication; Humans; Male; Mosaicism; Muscle, Skeletal; Muscular Dystrophy, Duchenne; Recombination, Genetic; Young Adult

APA Citation

Punetha, J., Mansoor, S., Bertorini, T., Kesari, A., Brown, K., & Hoffman, E. (2016). Somatic Mosaicism Due to a Reversion Variant Causing Hemi-atrophy: A Novel Variant of Dystrophinopathy.. European Journal of Human Genetics : EJHG, 24 (10). http://dx.doi.org/10.1038/ejhg.2016.22

Peer Reviewed

1