Clinical findings from the landmark MEF2C ‐related disorders natural history study

INTRODUCTION: MEF2C‐related disorders are characterized by developmental and cognitive delay, limited language and walking, hypotonia, and seizures. A recent systematic review identified 117 patients with MEF2C‐related disorders across 43 studies. Despite these reports, the disorder is not easily re...

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Detalles Bibliográficos
Autores principales: Cooley Coleman, Jessica A., Sarasua, Sara M., Moore, Hannah Warren, Boccuto, Luigi, Cowan, Christopher W., Skinner, Steven A., DeLuca, Jane M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184670/
https://www.ncbi.nlm.nih.gov/pubmed/35416405
http://dx.doi.org/10.1002/mgg3.1919

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184670/
https://www.ncbi.nlm.nih.gov/pubmed/35416405
http://dx.doi.org/10.1002/mgg3.1919

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