De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
Professional(s) : Camiel BOON, Elfride DE BAERE, Bart LEROY, Lonneke HAER-WIGMAN, Carel HOYNG, Katarina Stingl, Susanne KOHL, Laura Kühlewein, Laura Mauring, Petra Liskova, Isabelle MEUNIER, Francesca Simonelli, Sandra Valeina, Ingeborgh VAN DEN BORN
Center(s) : Amsterdam University Medical Center / Leiden University Medical Center ; Ghent University Hospital, Ghent, Belgium ; Radboud university medical center, Nijmegen, Netherlands ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Tartu University Hospital, Estonia ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy ; Children’s Clinical University Hospital, Riga, Latvia ; The Rotterdam Eye Hospital, Rotterdam, Netherlands
Working group(s) : Retinal Rare Eye Diseases (WG1)