Bi-allelic Variants in Three Genes Encoding Distinct Subunits of the Vesicular AP-5 Complex Cause Hereditary Macular Dystrophy.
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens,Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez,Regina Schlaeger, Filip Van den Broeck,Almudena Ávila Fernández, Lidia Fernández-Caballero, Irene Perea-Romero,Gema García-García,David Salom, Pascale Mazzola, Theresia Zuleger, Karin Poths,Tobias B Haack,Julie Jacob,Sascha Vermeer, Frédérique Terbeek, Nicolas Feltgen, Alexandre P Moulin, Louisa Koutroumanou, George Papadakis,Andrew C Browning, Savita Madhusudhan, Lotta Gränse,Eyal Banin,Ana Berta Sousa, Luisa Coutinho Santos, Laura Kuehlewein, Pietro De Angeli,Bart P Leroy,Omar A Mahroo, Fay Sedgwick, James Eden,Maximilian Pfau,Sten Andréasson,Hendrik P N Scholl,Carmen Ayuso,José M Millán,Dror Sharon,Miltiadis K Tsilimbaris,Veronika Vaclavik, Hoai V Tran, Tamar Ben-Yosef,Elfride De Baere,Andrew R Webster,Gavin Arno,Panagiotis I Sergouniotis,Susanne Kohl,Cristina Santos,Carlo Rivolta American journal of human genetics（2025）
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