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

Internet

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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