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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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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 |