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

Detalles Bibliográficos
Autores principales: Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Clinical/Scientific Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858950/
https://www.ncbi.nlm.nih.gov/pubmed/29560417
http://dx.doi.org/10.1212/NXG.0000000000000226
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author Alrohaif, Hadil
Töpf, Ana
Evangelista, Teresinha
Lek, Monkol
McArthur, Daniel
Lochmüller, Hanns
author_facet Alrohaif, Hadil
Töpf, Ana
Evangelista, Teresinha
Lek, Monkol
McArthur, Daniel
Lochmüller, Hanns
author_sort Alrohaif, Hadil
collection PubMed
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spelling pubmed-58589502018-03-20 Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome Alrohaif, Hadil Töpf, Ana Evangelista, Teresinha Lek, Monkol McArthur, Daniel Lochmüller, Hanns Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2018-03-19 /pmc/articles/PMC5858950/ /pubmed/29560417 http://dx.doi.org/10.1212/NXG.0000000000000226 Text en Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY) (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical/Scientific Notes
Alrohaif, Hadil
Töpf, Ana
Evangelista, Teresinha
Lek, Monkol
McArthur, Daniel
Lochmüller, Hanns
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
title Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
title_full Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
title_fullStr Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
title_full_unstemmed Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
title_short Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
title_sort whole-exome sequencing identifies mutations in mymk in a mild form of carey-fineman-ziter syndrome
topic Clinical/Scientific Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858950/
https://www.ncbi.nlm.nih.gov/pubmed/29560417
http://dx.doi.org/10.1212/NXG.0000000000000226
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