Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Reference

Morino, Hiroyuki, et al. “Mutations in Twinkle Primase-Helicase Cause Perrault Syndrome With Neurologic Features”. Neurology, vol. 83, no. 22, Oct. 2014, pp. 2054–2061, https://doi.org/10.1212/wnl.0000000000001036.

PubMed Reference Number (PMID)

25355836