Shashi V, Xie P, Schoch K, Goldstein DB, Howard TD, Berry MN, Schwartz CE, Cronin K, Sliwa S, Allen A, Need AC

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.

Clin Genet 88:386-90 (2015)
DOI:10.1111/cge.12511

Johansson J, Lideus 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, Anneren G, Wilbe M, Bondeson ML

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

Eur J Hum Genet 32:333-341 (2024)
DOI:10.1038/s41431-023-01392-y