Associated Papers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.
Malechka VV et al.
Genes, 2022
35627310 (PubMed )
Supplement: genes-13-00925-s001.zip › genes-1697188-supplementary.pdf
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
35260635 (PubMed )
Supplement: 41598_2022_7618_MOESM1_ESM.pdf
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
Ba-Abbad R et al.
Eye (london, England), 2021
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