Associated Papers
Alström syndrome: A rare cause of dilated cardiomyopathy in five Chinese children.
Qi Y et al.
Gene, 2025
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Ocular findings and genetic test in Alström syndrome in childhood.
Wang Y et al.
Experimental Eye Research, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome.
Huang L et al.
Ophthalmic Genetics, 2022
[Analysis of ALMS1 gene variants in seven patients with Alström syndrome].
Ding Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L et al.
Genes, 2018
30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS2.xlsx › Sheet1
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD et al.
Human Mutation, 2015
Alstrom syndrome (OMIM 203800): a case report and literature review.
Joy T et al.
Orphanet Journal of Rare Diseases, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Marshall JD et al.
Human Mutation, 2007
Select a paper to view details