Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA.
Shuvarikov A, et al. Among authors: ravnan jb.
Hum Mutat. 2013 Oct;34(10):1415-23. doi: 10.1002/humu.22384. Epub 2013 Aug 13.
Hum Mutat. 2013.
PMID: 23878096
Free PMC article.