Associated Papers
Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.
Huang Y et al.
Orphanet Journal of Rare Diseases, 2025
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1
Syndromic ciliopathy: a taiwanese single-center study.
Pan YW et al.
Bmc Medical Genomics, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.
Zhang Q et al.
Frontiers in Genetics, 2022
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD et al.
Human Mutation, 2015
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