Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism
(2021)
Journal Article
Young, N., Asif, M., Jackson, M., Fernández-Mayoralas, D. M., de la Peña, M. J., Calleja-Pérez, B., Álvarez, S., Hunter-Featherstone, E., Noegel, A. A., Höhne, W., Nürnberg, P., Obara, B., Hussain, M. S., Karakesisoglou, I., & Fernández-Jaén, A. (2021). Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism. Genes, 12(9), Article 1294. https://doi.org/10.3390/genes12091294
Autism spectrum disorder (ASD) is a group of neurological and developmental disabilities characterised by clinical and genetic heterogeneity. The current study aimed to expand ASD genotyping by investigating potential associations with SYNE2 mutation... Read More about Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.