Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

Conclusion This study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants.

http://jmg.bmj.com/cgi/content/short/60/9/885?rss=1

Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Serpieri, V., Mortarini, G., Loucks, H., Biagini, T., Micalizzi, A., Palmieri, I., Dempsey, J. C., DAbrusco, F., Mazzotta, C., Battini, R., Bertini, E. S., Boltshauser, E., Borgatti, R., Brockmann, K., D'Arrigo, S., Nardocci, N., Fischetto, R., Agolini, E Tags: Open access Neurogenetics Source Type: research