Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns

Abstract Background SHANK2 disorder is a rare neurodevelopmental disorder caused by a deletion or pathogenic sequence variant of the SHANK2 gene and is associated with autism spectrum disorder (ASD), intellectual disability (ID), and developmental delay. To date, research in SHANK2 has focused on la...

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Bibliographic Details

Published in:	Journal of Neurodevelopmental Disorders
Main Authors:	Hailey Silver, Rori Greenberg, Paige M. Siper, Jessica Zweifach, Renee Soufer, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A. Bernstein, Alexander Kolevzon, Dorothy E. Grice, Joseph D. Buxbaum, Tess Levy
Format:	Article
Language:	English
Published:	BMC 2025-04-01
Subjects:	SHANK2 Autism spectrum disorder Developmental delay Intellectual and developmental disability Phenotype
Online Access:	https://doi.org/10.1186/s11689-025-09600-0