학술논문
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Document Type
Article
Author
Mechaussier, S.; Kaplan, J.; Rozet, J.-M.; Perrault, I.; Almoallem, B.; Van Schil, K.; Dueñas Rey, A.; De Baere, E.; Zeitz, C.; Condroyer, C.; Sahel, J.A.; Audo, I.; Jeddawi, L.; Van Dorpe, J.; Pelle, O.; Polak, M.; Boddaert, N.; Bahi-Buisson, N.; Cavallin, M.; Bacquet, J.-L.; Mouallem-Bézière, A.; Zambrowski, O.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 4 June 2020, 106(6):859-871)
Subject
Language
English
ISSN
15376605
00029297
00029297