Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Karakaya M, Mazaheri N, Polat I, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bönnemann CG, Yis U, Wirth B.
Karakaya M, et al. Among authors: polat i.
Brain. 2017 Oct 1;140(10):e65. doi: 10.1093/brain/awx222.
Brain. 2017.
PMID: 28969388
Free PMC article.
No abstract available.