RT Journal Article SR Electronic T1 Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome JF Neurology Genetics JO Neurol Genet FD Lippincott Williams & Wilkins SP e226 DO 10.1212/NXG.0000000000000226 VO 4 IS 2 A1 Alrohaif, Hadil A1 Töpf, Ana A1 Evangelista, Teresinha A1 Lek, Monkol A1 McArthur, Daniel A1 Lochmüller, Hanns YR 2018 UL http://ng.neurology.org/content/4/2/e226.abstract AB