Associated Papers
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?
Carrer A et al.
Genes, 2025
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM et al.
International Journal of Molecular Sciences, 2023
Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.
Szepetowski S et al.
American Journal of Hematology, 2022
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.
Méndez M et al.
Annals of Hematology, 2021
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Pauta M et al.
Fetal Diagnosis and Therapy, 2021
A case report of congenital erythropoietic anemia II in China with a novel mutation.
Zhang H et al.
Annals of Hematology, 2019
Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.
Bianchi P et al.
British Journal of Haematology, 2016
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
Congenital dyserythropoietic anemias.
Iolascon A et al.
Current Opinion in Hematology, 2011
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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