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

Sabrina Mechaussier1, Basamat Almoallem2, Christina Zeitz3

  • 1Laboratory of Genetics in Ophthalmology, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France.

American Journal of Human Genetics
|May 30, 2020
PubMed

Keywords:
CRSDRIMS2congenital cone-rod synaptic disorderdifferential diagnosisexome sequencingneurodevelopmental or pancreatic involvementstationary versus degenerative retinal diseasesynaptic membrane exocytosis genesyndromic

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