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Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review

BACKGROUND: Calcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (CCs) and autism spectrum disorder (ASD) or intellectual disability (ID) has been previously investigated. We delineate the spectrum of clinical phenotypes and th...

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Detalles Bibliográficos
Autores principales: Alzahrani, Alshaimaa, Alshalan, Maha, Alfurayh, Mohammed, Bin Akrish, Abdulaziz, Alsubeeh, Najlaa A., Al Mutairi, Fuad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10140517/
https://www.ncbi.nlm.nih.gov/pubmed/37122292
http://dx.doi.org/10.3389/fneur.2023.1131490