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
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.
Sun HN et al.
Molecular Genetics & Genomic Medicine, 2025
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
Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.
Medina G et al.
Cold Spring Harbor Molecular Case Studies, 2021
Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
Yang L et al.
Bmc Medical Genetics, 2017
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