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

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Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-a...

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Detalles Bibliográficos
Autores principales: Mechaussier, Sabrina, Almoallem, Basamat, Zeitz, Christina, Van Schil, Kristof, Jeddawi, Laila, Van Dorpe, Jo, Dueñas Rey, Alfredo, Condroyer, Christel, Pelle, Olivier, Polak, Michel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Cavallin, Mara, Bacquet, Jean-Louis, Mouallem-Bézière, Alexandra, Zambrowski, Olivia, Sahel, José Alain, Audo, Isabelle, Kaplan, Josseline, Rozet, Jean-Michel, De Baere, Elfride, Perrault, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273530/
https://www.ncbi.nlm.nih.gov/pubmed/32470375
http://dx.doi.org/10.1016/j.ajhg.2020.04.018
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