Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Sleiman S, Marshall AE, Dong X, Mhanni A, Alidou-D'Anjou I, Frosk P, Marin SE, Stark Z, Del Bigio MR, McBride A, Sadedin S, Gallacher L; Care4Rare Canada Consortium; Christodoulou J, Boycott KM, Dragon F, Kernohan KD.
Sleiman S, et al. Among authors: del bigio mr.
Hum Mol Genet. 2022 Feb 21;31(4):614-624. doi: 10.1093/hmg/ddab247.
Hum Mol Genet. 2022.
PMID: 34542157