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Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
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Journal Article
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2024
Overview
Johansson et al. recently described the genetic diagnosis of a large family with Gusatvson syndrome. The pathogenic variant in this family is an in-frame deletion in RBMX, also known as HNRNPG. This work expands the definition of the HNRNP-Related Neurodevelopmental Disorders and provides insights into analyzing the related conditions.
Publisher
Nature Publishing Group
Subject
