Clinical and Genetic Characterization of a Russian Family with Bardet–Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene. - Nikolaeva, Alexandra F.; Boyko, Timur V.; Kadyshev, Vitaly V.; Shestopalova, Elena A.; Kuznetsova, Svetlana V.; Panchenko, Elizabeth G.; Tiulpakov, Anatoly N.; Ryzhkova, Oxana P.; Aripova, Tamara O.; Hegay, Tatyana R.; Kutsev, Sergey I.; Sigin, Vladimir O. (Genes, 2026)