Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias.

Anemia-associated mutations disrupt the CDIN1-Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA-I) disease.

Use of Post-Transplant Cyclophosphamide in Matched Related and Unrelated Donor Hematopoietic Stem Cell Transplant for Benign Hematological Disorders.

MMS22L is a novel key actor of normal and pathological erythropoiesis.

[KLF1 (Krüppel-like factor 1) variants in the pathogenesis of hematological diseases].

Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review.

Codanin-1, defective in congenital dyserythropoietic anemia I (CDA-I), regulates erythroid differentiation.

Haploidentical hematopoietic stem cell transplantation for the treatment of congenital dyserythropoietic anemia combined with thalassemia: a report of two cases.

KLF1 coordinates specialized transcriptional networks required to maintain the integrity of terminal erythropoiesis.

Congenital Dyserythropoietic Anemia Type III Associated With a Novel KIF23 Variant (c.2132A>G; p.Gln711Arg): A Case Report.

Increased Prevalence of Thromboembolic Events in Patients with Congenital Dyserythropoietic Anemia Type I.

Ropeginterferon alfa-2b as a promising alternative to conventional interferon in CDA type 1: a case report of two siblings.

Severe Neonatal Anemia with Multi-Organ Failure, Extreme Placentomegaly, and Placental Megaloblastic Erythroblastosis as Features in Identifying Congenital Dyserythropoietic Anemia Type 1: A Case Report.

Fertility preservation by ovarian tissue cryopreservation of children in China--umbilical single-incision surgery and perioperative experience.

Mechanism of ASF1 engagement by CDAN1.

Hereditary disorders of ineffective erythropoiesis.

Hematopoietic Stem Cell Transplant of a Congenital Dyserythropoietic Anemia Type II Patient: A Rare Report from the Indian Population.

Autoinflammatory Bone Diseases.

Reduced GATA1 levels are associated with ineffective erythropoiesis in sickle cell anemia.

The unlikely combination: Anderson-Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient.

Mechanism of ASF1 Inhibition by CDAN1.

Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.

A Case of Congenital Dyserythropoietic Anemia Masked by Hemoglobin H Disease.

Congenital dyserythropoietic anemia type II-A rare case report.

Novel therapeutic approaches in thalassemias, sickle cell disease, and other red cell disorders.

Congenital Dyserythropoietic Anemia Type II With Myelofibrosis in an Adult Patient: A Report of a Rare Case With a Brief Review.

The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscission.

Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.

Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome.

Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia.

Novel mutation in KIF23 causing congenital dyserythropoietic anemia type III in patients who underwent allogeneic hematopoietic stem cell transplantation.

Neonatal diagnosis of congenital dyserythropoietic anemia type II.

Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?

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.

Congenital Dyserythropoietic Anemia Type I: A Rare Case Report.

Severe β-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia.

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.

Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population.

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.

Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population.

A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype.

Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations.

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.

Rare congenital Dyserythropoietic anemia of childhood: A case report.

Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature.

Ultrastructural characteristics of erythroid cells in congenital dyserythropoietic anemia type II, with a focus on peripheral cisternae and double membranes.

Rise of the planet of rare anemias: An update on emerging treatment strategies.

Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia.

Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.

[A case of cholelithiasis that seems like secondary hemochromatosis as a result of congenital dyserythropoietic anemia].

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.

Congenital Dyserythropoietic Anemia Type II: A Case Report.

An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates.

Images from the Haematologica Atlas of Hematologic Cytology: congenital dyserythropoietic anemia type II.

[Differential diagnosis of inherited bone marrow failure syndromes in erythrocyte disorders].

Autism-associated chromatin remodeler CHD8 regulates erythroblast cytokinesis and fine-tunes the balance of Rho GTPase signaling.

Ablation of Tmcc2 Gene Impairs Erythropoiesis in Mice.

Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level.

Adrenal extramedullary hematopoiesis in the setting of anti-Diego antibody and congenital dyserythropoietic anemia.

Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium.

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia.

Multiple oral and cerebral relapses of a Granular cell tumor (Abrikossoff Tumor) in a young girl affected by congenital dyserythropoietic anemia type II.

[Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].

A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice.

SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II.

Hemochromatosis, Iron Overload-Related Diseases, and Pancreatic Cancer Risk in the Surveillance, Epidemiology, and End Results (SEER)-Medicare.

Peripheral blood features of iron overload in post-splenectomy, type I congenital dyserythropoietic anemia.

[Clinical and genetic analysis of a child with Majeed syndrome].

[Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia].

Cdan1 Is Essential for Primitive Erythropoiesis.

Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia.

Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.

Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.

Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report.

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.

An IDH1-vitamin C crosstalk drives human erythroid development by inhibiting pro-oxidant mitochondrial metabolism.

ER-to-Golgi transport and SEC23-dependent COPII vesicles regulate T cell alloimmunity.

Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1).

VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.

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.

Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation.

Hepatic and cardiac iron load as determined by MRI T2* in patients with congenital dyserythropoietic anemia type I.

Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.

Differential tissue specific expression of Kif23 alternative transcripts in mice with the human mutation causing congenital dyserythropoietic anemia type III.

Congenital Anemia Phenotypes Due to KLF1 Mutations.

RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.

Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.

Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1).

Hemoglobin switching in mice carrying the Klf1Nan variant.

Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a.

Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease.

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant.

A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature.

A Krüppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity.

E. coli Monomicrobial Necrotizing Fasciitis in an Iron-Overloaded Adolescent.

Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation.

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.

Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report.

Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature.

CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia.

Transfusion independence after repeated haploidentical hematopoietic cell transplants in a patient with congenital dyserythropoietic anemia type II and hemosiderosis.

Managing the Unusual Causes of Fetal Anemia.

Caution is Needed in Interpreting Hemoglobin A1c Levels in the Muslim Bedouin Population of Southern Israel.

The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant.

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.

Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report.

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors.

[New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review].

KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cells.

Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient.

Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis.

Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation.

[Rare anemias from the group of congenital bone marrow failure syndromes].

Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo.

[Congenital dyserythropoietic anemia type Ⅱ with rare SEC23B mutations: a case report].

Internuclear bridging outside of primary myelodysplasia and congenital dyserythropoietic anemia.

Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia.

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene.

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.

Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias.

[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].

Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease.

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.

Diagnosis and Management of Congenital Dyserythropoietic Anaemia Type II in a Secundigravida.

KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.

[Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II].

Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a.

Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations.

Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia.

Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.

Heavy metal levels in patients with ineffective erythropoiesis.

Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.

GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.

An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations.

Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia.

A case of congenital dyserythropoietic anemia type IV.

Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia.

[A case of genetically diagnosed congenital dyserythropoietic anemia].

CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis.

Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II.

Distal limb anomalies in patients with congenital dyserythropoietic anemia.

Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases?

Expression and methylation data from SLE patient and healthy control blood samples subdivided with respect to ARID3a levels.

Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II.

New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia.

Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha.

Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.

Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice.

Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

Hb TAYBE: clinical and morphological findings IN 43 patients.

Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox.

Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene.

Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III.

KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.

Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India.