Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila-Fernández, Béatrice Bocquet, Luisa Coutinho-Santos, Benedetto Falsini, Lidia Fernandez-Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín-Mérida, María Juliana Ballesta-Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M Millán, Monika Pankievič, Irene Perea-Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti
چکیده
To describe the clinical and genetic characteristics of patients with biallelic disease-causing variants in the PRCD (Progressive Rod-Cone Degeneration) gene. Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries. Clinical assessments…
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DOI: 10.1111/aos.70220