@article {492,
	title = {Whole-exome sequencing identifies mutations in  in a mild form of Carey-Fineman-Ziter syndrome.},
	journal = {Neurol Genet},
	volume = {4},
	year = {2018},
	month = {2018 Apr},
	pages = {e226},
	issn = {2376-7839},
	doi = {10.1212/NXG.0000000000000226},
	author = {Alrohaif, Hadil and Topf, Ana and Evangelista, Teresinha and Lek, Monkol and McArthur, Daniel and Lochm{\"u}ller, Hanns}
}
