Autosomal Dominant Intellectual Development Disorder-6 (MRD6) Without Seizures Linked to a De Novo Mutation in the grin2b Gene Revealed by Exome Sequencing: A Case Report of a Moroccan Child

Autosomal dominant intellectual development disorder-6 (MRD6) arises from a grin2b gene mutation, inducing neurodevelopmental issues. The effects of MRD6 encompass cognitive disabilities, seizures, muscle tone decline, and autism-like traits. Its severity ranges from mild impairment to severe epilep...

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Detalles Bibliográficos
Autores principales: El Mouhi, Hinde, Abbassi, Meriame, Sayel, Hanane, Trhanint, Said, Natiq, Abdelhafid, El Hejjioui, Brahim, Jalte, Merym, Ahmadi, Youssef, Chaouki, Sana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623208/
https://www.ncbi.nlm.nih.gov/pubmed/37927744
http://dx.doi.org/10.7759/cureus.46456

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