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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson J, Lidéus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, Ekvall S, Molin AM, Pham M, Vihinen M, Lagerstedt-Robinson K, Nordgren A, Jemth P, Ameur A, Annerén G, Wilbe M, Bondeson ML. Johansson J, et al. Among authors: lideus s. Eur J Hum Genet. 2024 Mar;32(3):333-341. doi: 10.1038/s41431-023-01392-y. Epub 2023 Jun 5. Eur J Hum Genet. 2024. PMID: 37277488 Free PMC article.
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Johansson J, Frykholm C, Ericson K, Kazamia K, Lindberg A, Mulaiese N, Falck G, Gustafsson PE, Lidéus S, Gudmundsson S, Ameur A, Bondeson ML, Wilbe M. Johansson J, et al. Among authors: lideus s. Am J Med Genet A. 2022 Jun;188(6):1676-1687. doi: 10.1002/ajmg.a.62685. Epub 2022 Feb 15. Am J Med Genet A. 2022. PMID: 35166435 Free PMC article.