Disease: Dyserythropoietic anemia- congenital type 2
- <em>LPIN2</em>-Related Majeed Syndrome
- A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype
- A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country
- Benign clinical phenotype of co-inherited congenital dyserythropoietic anaemia type I and heterozygous haemoglobin Lepore
- Congenital dyserythropoietic anaemia type II in a teenager presenting with severe anaemia
- Congenital Dyserythropoietic Anemia Type I: A Rare Case Report
- 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 II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population
- Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population
- Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature
- Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia
- Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population
- Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
- Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency
- Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations
- Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia
- Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome
- IL-1 blocking experience in a case with Majeed syndrome diagnosed in adulthood
- Living with… Rendu-Osler disease
- LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature
- Neonatal diagnosis of congenital dyserythropoietic anemia type II
- New Cases and Mutations in <em>SEC23B</em> Gene Causing Congenital Dyserythropoietic Anemia Type II
- New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
- Non-deletional haemoglobin H (Hb H) disease morphologically masquerading as congenital dyserythropoietic anaemia type II: a diagnostic pitfall
- Novel mutation in KIF23 causing congenital dyserythropoietic anemia type III in patients who underwent allogeneic hematopoietic stem cell transplantation
- Rare congenital Dyserythropoietic anemia of childhood: A case report
- Rise of the planet of rare anemias: An update on emerging treatment strategies
- Severe beta-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia
- Severe β-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia
- The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscission
- Ultrastructural characteristics of erythroid cells in congenital dyserythropoietic anemia type II, with a focus on peripheral cisternae and double membranes
- Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients