POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.
Oh DY, Matsumoto Y, Kitajiri SI, Kim NKD, Kim MY, Kim AR, Lee M, Lee C, Tomkinson AE, Katsuno T, Kim SY, Shin HW, Han JH, Lee S, Park WY, Choi BY.
Oh DY, et al. Among authors: lee m, lee c, lee s.
Hum Mutat. 2020 May;41(5):913-920. doi: 10.1002/humu.23984. Epub 2020 Jan 30.
Hum Mutat. 2020.
PMID: 31944473
Free PMC article.