A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome

Detalles Bibliográficos
Autores principales: Hanes, Ilana, McMillan, Hugh J., Ito, Yoko, Kernohan, Kristin D., Lazier, Joanna, Lines, Matthew A., Dyment, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Clinical/Scientific Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286657/
https://www.ncbi.nlm.nih.gov/pubmed/32607449
http://dx.doi.org/10.1212/NXG.0000000000000452

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286657/
https://www.ncbi.nlm.nih.gov/pubmed/32607449
http://dx.doi.org/10.1212/NXG.0000000000000452

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