Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

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Authors: Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Jo Van Dorpe, Alfredo Dueñas Rey, Christel Condroyer, Olivier Pelle, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Mara Cavallin, Jean-Louis Bacquet, Alexandra Mouallem-Bézière, Olivia Zambrowski, José Alain Sahel, Isabelle Audo, Josseline Kaplan, Jean-Michel Rozet, Elfride De Baere, Isabelle Perr

Journal title: The American Journal of Human Genetics

Journal number: 106/6

Journal publisher: University of Chicago Press

Published year: 2020

Published pages: 859-871

DOI identifier: 10.1016/j.ajhg.2020.04.018

ISSN: 0002-9297