Monoallelic CRMP1 gene variants cause neurodevelopmental disorder

Collapsin response mediator proteins (CRMPs) are key for brain development and function. Here, we link CRMP1 to a neurodevelopmental disorder. We report heterozygous de novo variants in the CRMP1 gene in three unrelated individuals with muscular hypotonia, intellectual disability, and/or autism spec...

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Detalles Bibliográficos
Autores principales: Ravindran, Ethiraj, Arashiki, Nobuto, Becker, Lena-Luise, Takizawa, Kohtaro, Lévy, Jonathan, Rambaud, Thomas, Makridis, Konstantin L, Goshima, Yoshio, Li, Na, Vreeburg, Maaike, Demeer, Bénédicte, Dickmanns, Achim, Stegmann, Alexander PA, Hu, Hao, Nakamura, Fumio, Kaindl, Angela M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9803352/
https://www.ncbi.nlm.nih.gov/pubmed/36511780
http://dx.doi.org/10.7554/eLife.80793

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