Associated Papers
Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias.
Nostroso A et al.
Hemasphere, 2026
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM et al.
International Journal of Molecular Sciences, 2023
Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium.
Rangarajan HG et al.
Transplantation and Cellular Therapy, 2022
High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.
Jacobson JD et al.
Endocrinology, 2020
A case report of congenital erythropoietic anemia II in China with a novel mutation.
Zhang H et al.
Annals of Hematology, 2019
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.
Russo R et al.
American Journal of Hematology, 2014
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Punzo F et al.
Orphanet Journal of Rare Diseases, 2011
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
Russo R et al.
American Journal of Hematology, 2011
21850656 (PubMed )
Supplement: ajh0086-0727-SD1.doc
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.
Iolascon A et al.
Haematologica, 2010
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K et al.
Nature Genetics, 2009
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