Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

Autor: Lerat, J., Magdelaine, C., Lunati, A., Dzugan, H., Dejoie, C., Rego, M., Beze Beyrie, P., Bieth, E., Calvas, P., Cintas, P., Delaubrier, A., Demurger, F., Gilbert-Dussardier, B., Goizet, C., Journel, H., Laffargue, F., Magy, L., Taithe, F., Toutain, A., Urtizberea, J.A., Sturtz, F., Lia, A.S.
Zdroj: In Journal of the Neurological Sciences 15 November 2019 406
Databáze: ScienceDirect