Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
RIMS2 功能丧失导致综合征性先天性锥杆突触疾病,伴有神经发育和胰腺受累
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.04.018
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