Research map: Identification of a Novel Compound Heterozygous SEC23B in a Chinese Child with Congenital Dyserythropoietic Anemia Type II

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
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  7. Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship · Achille Iolascon · 2009 · 63 citations · Cited by this paper
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  9. Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II · Roberta Russo · 2013 · 39 citations · Cited by this paper
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  12. Comparative Analysis of Erythroferrone and Hepcidin as Emerging Biomarkers of Iron Homeostasis in Patients with β-Thalassemia Major: A Case-Control Study from Pakistan · 2026 · Related
  13. Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation · Maurizio Miano · 2019 · 26 citations · Cited by this paper
  14. Identification of a New δ chain hemoglobin Variant, Hb A2-Malay [δ46(CD5)Gly > Arg, HBD : C.139G > C;316-443A > G] · 2025 · Related
  15. Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene · Francesca Punzo · 2011 · 22 citations · Cited by this paper
  16. Molecular Diagnosis and Stability Testing of Hemoglobin Phnom Penh [ HBA1 : C.353_355dup (p.Phe118_Thr119insIle)] – The First Northern Thai Case · 2025 · Related
  17. RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway · Gianluca De Rosa · 2020 · 21 citations · Cited by this paper
  18. Pituitary Versus Hepatic Iron Assessment in Transfusion-Dependent Thalassemia: Is Signal Intensity Ratio a Reliable Tool? · 2025 · Related
  19. Clinical and genetic features of congenital dyserythropoietic anemia ( CDA ) · María‐Isabel Moreno‐Carralero · 2018 · 19 citations · Cited by this paper
  20. Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia · Sultan Aydın Köker · 2018 · 14 citations · Cited by this paper
  21. SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells · Barbara Eleni Rosato · 2022 · 14 citations · Cited by this paper
  22. Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias · Roberta Russo · 2024 · 14 citations · Cited by this paper
  23. How I approach hereditary hemolytic anemia and splenectomy · Jennifer Rothman · 2020 · 13 citations · Cited by this paper
  24. Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature · Vedat Uygun · 2019 · 12 citations · Cited by this paper
  25. Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium · Hemalatha G. Rangarajan · 2022 · 11 citations · Cited by this paper
  26. New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II · Melina Mara Musri · 2023 · 10 citations · Cited by this paper
  27. The proximity interactome of PML isoforms I and II under fatty acid stress · Jordan Thompson · 2024 · 4 citations · Cited by this paper
  28. Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature · Jiajia Zheng · 2023 · 3 citations · Cited by this paper
  29. Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert’s syndrome · Woori Jang · 2024 · 2 citations · Cited by this paper
  30. Congenital Dyserythropoietic Anaemia Type II with SEC23B Mutation in Adults: A Case Series · Priyanka Moule · 2024 · 2 citations · Cited by this paper
  31. Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II · Shanshan Chen · 2021 · 1 citation · Cited by this paper
  32. Congenital Dyserythropoietic Anemia Type II With Myelofibrosis in an Adult Patient: A Report of a Rare Case With a Brief Review · Shruti Shemawat · 2024 · 1 citation · Cited by this paper
  33. Salmonella Effector SpvC Targets SEC23B of Intestinal Epithelial Cells to Resist Gasdermin D-Mediated Protection Against Systemic Infection · Liting Zhou · 2026 · 1 citation · Cited by this paper

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