Understanding rare variant contributions to autism: lessons from dystrophin-deficient model

Understanding rare variant contributions to autism: lessons from dystrophin-deficient model

Abstract Duchenne and Becker Muscular Dystrophy are dystrophinopathies with a prevalence of 1:5000–6000 males, caused by pathogenic variants in DMD. These conditions are often accompanied by neurodevelopmental disorders (NDDs) like autism (ASD; ~20%) and intellectual disability (ID; ~30%). However,...

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Main Authors: Claudia Ismania Samogy Costa, Luciana Madanelo, Jaqueline Yu Ting Wang, Gabriele da Silva Campos, Ana Cristina De Sanctis Girardi, Marília Scliar, Frederico Monfardini, Rita de Cássia Mingroni Pavanello, Vivian Romanholi Cória, Maria Dulcetti Vibranovski, Ana Cristina Krepischi, Naila Cristina Vilaça Lourenço, Mayana Zatz, Guilherme Lopes Yamamoto, Elaine Cristina Zachi, Maria Rita Passos-Bueno
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00469-5
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https://doi.org/10.1038/s41525-025-00469-5

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