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Dystrophin genetic variants and autism

Loss-of-function variants in the dystrophin gene, a well-known cause of muscular dystrophies, have emerged as a mutational risk mechanism for autism spectrum disorder (ASD), which in turn is a highly prevalent (~ 1%) genetically heterogeneous neurodevelopmental disorder. Although the association of...

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Detalles Bibliográficos
Autores principales: Passos-Bueno, Maria Rita, Costa, Claudia Ismania Samogy, Zatz, Mayana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501027/
https://www.ncbi.nlm.nih.gov/pubmed/37861890
http://dx.doi.org/10.1007/s44192-022-00008-z