Litcius/Paper detail

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

Sabrina Méchaussier, Basamat Almoallem, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Jo Van Dorpe, Alfredo Dueñas Rey, Christel Condroyer, Olivier Pellé, Michel Polak, Nathalie Boddaert, Nadia Bahi‐Buisson, Mara Cavallin, J.-L. Bacquet, Alexandra Mouallem-Bézière, Olivia Zambrowski, José‐Alain Sahel, Isabelle Audo, Josseline Kaplan, Jean‐Michel Rozet, Elfride De Baere, Isabelle Perrault

2020The American Journal of Human Genetics36 citationsDOIOpen Access PDF

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BiologyRetinalElectroretinographyImmunostainingRetinaNeurosciencePhotophobiaRetinal degenerationPathologyInternal medicineMedicineImmunologyImmunohistochemistryBiochemistryRetinal Development and DisordersRetinal Diseases and TreatmentsNeuroinflammation and Neurodegeneration Mechanisms