Associated Papers
Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family.
Mammadova N et al.
Molecular Biology Reports, 2025
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
A novel variant site of Alstrom syndrome in a Chinese child: a case report.
Xu R et al.
Translational Pediatrics, 2022
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