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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: wilbe m. 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.
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.
Farias FHG, Dahlqvist J, Kozyrev SV, Leonard D, Wilbe M, Abramov SN, Alexsson A, Pielberg GR, Hansson-Hamlin H, Andersson G, Tandre K, Bengtsson AA, Sjöwall C, Svenungsson E, Gunnarsson I, Rantapää-Dahlqvist S, Syvänen AC, Sandling JK, Eloranta ML, Rönnblom L, Lindblad-Toh K. Farias FHG, et al. Among authors: wilbe m. Eur J Hum Genet. 2019 Mar;27(3):432-441. doi: 10.1038/s41431-018-0297-x. Epub 2018 Nov 20. Eur J Hum Genet. 2019. PMID: 30459414 Free PMC article.
22 results