Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy
Anneke T. Vulto‐van Silfhout(Radboud University Nijmegen), Machteld M. Oud(Radboud University Nijmegen), Fiona Blanco‐Kelly(Hospital Universitario Fundación Jiménez Díaz), Marta Cortón(Centre for Biomedical Network Research on Rare Diseases), Elisabeth F. C. van Rossum(Erasmus MC), John Vissing(University of Copenhagen), Tobias B. Haack(Technical University of Munich), Lidia Fernández‐Caballero(Instituto de Salud Carlos III), William L. Macken(Princess Anne Hospital), Tjakko J. van Ham(Erasmus MC), Radha Ramachandran(Hammersmith Hospital), Irina Balikova(KU Leuven), Siying Lin(Moorfields Eye Hospital NHS Foundation Trust), Volker Straub(Newcastle upon Tyne Hospitals NHS Foundation Trust), Jennifer Spillane(University College London Hospitals NHS Foundation Trust), Pietro De Angeli(STZ eyetrial), Peter Miny(University Hospital of Basel), Suzanne Yzer(Radboud University Nijmegen), Jan-Philipp Bodenbender(STZ eyetrial), Ronald van Beek(Radboud University Nijmegen), Miriam Bauwens(Ghent University Hospital), Serwet Demirdas(Erasmus MC), Filip Van den Broeck(Ghent University Hospital), Alberta A. H. J. Thiadens(Erasmus MC), Ingrid M. Jazet(Leiden University Medical Center), Carmen Ayuso(Unknown), Isabel Filges(University Children’s Hospital Basel), Pascal Joset(University of Zurich), Ana Töpf(NIHR Newcastle Biomedical Research Centre), Simon D. W. Frost(Microsoft (United States)), Susanne Roosing(Radboud University Nijmegen), Gavin Arno(Greenwood Genetic Center), Daniela Q.C.M. Barge‐Schaapveld(Leiden University), Jeroen Pas(Radboud University Nijmegen), Charlotte Brasch‐Andersen(University of Southern Denmark), Peggy Carol Martínez-Esteban(Instituto Nacional de Salud del Niño), Monika Weisz‐Hubshman(Baylor College of Medicine), Jordi Díaz-Manera(Hospital de Sant Pau), Susanne Kohl(University of Tübingen), Erik de Vrieze(Radboud University Nijmegen), Karin Poths, Lonneke Haer‐Wigman(Sanquin)
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