Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Mechaussier S,Almoallem B,Zeitz C,Van Schil K,Jeddawi L,Van Dorpe J,Rey A,Condroyer C,Pelle O,Polak M,Boddaert N,Bahi-Buisson N,Cavallin M,Bacquet J,Mouallem-Bézière A,Zambrowski O,Sahel J,Audo I,Kaplan J,Rozet J,De Baere E,Perrault I
Source :
Am J Hum Genet
2020 Sep 5
Pmid / DOI:
32888510