Associated Papers
A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.
Wang Y et al.
Bmc Medical Genomics, 2024
39135028 (PubMed )
Supplement: 12920_2024_1973_MOESM6_ESM.docx
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
Wu C et al.
Orphanet Journal of Rare Diseases, 2024
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Liang G et al.
Molecular Genetics and Genomics : Mgg, 2024
Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.
Kulikowska J et al.
Frontiers in Genetics, 2023
Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children.
Wu C et al.
Frontiers in Genetics, 2021
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