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Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients

Developmental regression describes a child who begins to lose his previously acquired milestones skills after he has reached a certain developmental stage and though affects his childhood development. It is associated with neurodegenerative diseases including leukodystrophy and neuronal ceroid lipof...

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Detalles Bibliográficos
Autores principales: Refeat, Miral M., Naggar, Walaa El, Saied, Mostafa M. El, Kilany, Ayman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9823068/
https://www.ncbi.nlm.nih.gov/pubmed/36435927
http://dx.doi.org/10.1007/s10048-022-00703-7