Associated Papers
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Rump P et al.
Bmc Medical Genomics, 2016
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Picker-Minh S et al.
Orphanet Journal of Rare Diseases, 2014
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Aligianis IA et al.
Nature Genetics, 2005
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