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

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Bibliographic Details
Main Authors:	Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns
Format:	Text
Language:	English
Published:	Wolters Kluwer 2018
Subjects:	Clinical/Scientific Notes
Online Access:	https://pmc.ncbi.nlm.nih.gov/articles/PMC5858950/ https://pubmed.ncbi.nlm.nih.gov/29560417 http://dx.doi.org/10.1212/NXG.0000000000000226
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