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

TitleWhole-exome sequencing identifies mutations in in a mild form of Carey-Fineman-Ziter syndrome.
Publication TypeJournal Article
Year of Publication2018
AuthorsAlrohaif, H, Topf, A, Evangelista, T, Lek, M, McArthur, D, Lochmüller, H
JournalNeurol Genet
Volume4
Issue2
Paginatione226
Date Published2018 Apr
ISSN2376-7839
DOI10.1212/NXG.0000000000000226
Alternate JournalNeurol Genet
PubMed ID29560417
PubMed Central IDPMC5858950
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States