Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

Alrohaif, HadilTöpf, AnaEvangelista, TeresinhaLek, MonkolMcArthur, DanielLochmüller, Hanns2018-04-192018Alrohaif, Hadil, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, and Hanns Lochmüller. 2018. “Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.” Neurology: Genetics 4 (2): e226. doi:10.1212/NXG.0000000000000226. http://dx.doi.org/10.1212/NXG.0000000000000226.http://nrs.harvard.edu/urn-3:HUL.InstRepos:35982118en-USWhole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndromeJournal Article2018-04-1910.1212/NXG.0000000000000226