Associated Papers
Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.
Peng H et al.
Diabetology & Metabolic Syndrome, 2025
Co-Occurrence of Nephronophthisis Type 1 and Alström Syndrome: A Case Report.
Rossoni L et al.
Nephron, 2024
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome.
Shi J et al.
Frontiers in Genetics, 2022
Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.
Halliday BJ et al.
Plos Genetics, 2018
29912901 (PubMed )
Supplement: pgen.1007399.s002.xlsx › Sheet2
Familial Alström syndrome: a rare cause of bilateral progressive hearing loss.
Bahmad F et al.
Brazilian Journal of Otorhinolaryngology, 2014
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