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
Alström syndrome: A rare cause of dilated cardiomyopathy in five Chinese children.
Qi Y et al.
Gene, 2025
Alström syndrome-wide clinical variability within the same variant: a case report and literature review.
Jecan-Toader D et al.
Frontiers in Pediatrics, 2024
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.
Zhang Q et al.
Frontiers in Genetics, 2022
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
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
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Ozantürk A et al.
Journal of Human Genetics, 2015
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