Associated Papers
Long-Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II.
Hao N et al.
Journal of Inherited Metabolic Disease, 2025
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Zanetti A et al.
Human Genomics, 2024
39617925 (PubMed )
Supplement: 40246_2024_701_MOESM1_ESM.xlsx › TableS3_UniquePointVariants
Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.
Zhang Z et al.
Frontiers in Genetics, 2023
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
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