Associated Papers
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
Gabrielle PH et al.
Scientific Reports, 2021
34385517 (PubMed )
Supplement: 41598_2021_95743_MOESM2_ESM.xlsx › Supplementary_Table_S1
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
El Chehadeh-Djebbar S et al.
European Journal of Human Genetics : Ejhg, 2013
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
El Chehadeh S et al.
Journal of Medical Genetics, 2010
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