Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
Webb BD, Evans A, Naidich TP, M Bird L, Parikh S, Fernandez Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE.
Webb BD, et al. Among authors: naidich tp.
Hum Mutat. 2021 Jun;42(6):685-693. doi: 10.1002/humu.24201. Epub 2021 Apr 15.
Hum Mutat. 2021.
PMID: 33783914
Free PMC article.