Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Cristina Calderan, Andrea Ciolfi, Lorenzo Stella, Gianfranco Bocchinfuso, Simone Martinelli, Philippe M Campeau, Paolo Calligari, Elisabetta Flex, Charles Marques Lourenco, Francesca Clementina Radio, Christian T Thiel, Gerarda Cappuccio, Ulrike Hüffmeier, Giovanna Carpentieri, Clay Smith, Alexis Heidlebaugh, Julie S Cohen, Nicola Brunetti Pierri, Ahna Neustad, Bianca E Russell, Elena Messina, Marco Ferilli, Agostina Pietrantoni, Serena Cecchetti, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni, Stéphane Auvin, Boris Keren, Cyril Mignot, Marco Tartaglia, Viviana Caputo, Leonardo Salviati, Yline Capri, André Reis
HGG advances 2024;5(4):100349