Erin Conboy Filippo Vairo Darrel Waggoner Carole Ober Soma Das Radhika Dhamija Eric W Klee Pavel Pichurin
10.1155/2017/9184265
Case Rep Genet
2017;2017:9184265.
CC BY
https://pubmed.ncbi.nlm.nih.gov/28487785/
Case Reports
PMC5405358
28487785
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
2017