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Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Stijn Van de Sompele,Caroline Van Cauwenbergh,Marjolein Carron,Alfredo Duenas Rey,Frauke Coppieters,Toon Rosseel,Hong Tran,Robrecht Cannoodt,Thalia Van Laethem,Brecht Guillemyn,Dimitri Roels, Helena Flipts,Erik Fransen,Marleen Praet,Thomas Langmann,Katharina Dannhausen, Robinato Elisa,Lan Yu, Frances High,Karin Dahan, Madeleine Fanemel,Ketil Heimdal,Flavio Faletra,Wendy Chung,Kris Vleminckx,Andrew Webster,Bart Leroy,Elfride De Baere

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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