Article

A case report of congenital dyserythropoietic anemia type II with a novel SEC23B mutation and accompanied by a large segmental deletion and literature review

2024-06-13

Abstract excerpt

Congenital dyserythropoietic anemia (CDA) is a rare heterogeneous hereditary disorder characterized by ineffective erythropoiesis and morphological abnormalities of erythrocytes and bone marrow erythroblasts.Currently, six types of CDA with different genetic mutations have been identified, with CDAII being the most prevalent. CDA II is an autosomal recessive disorder with the causative gene on the SEC23B gene at 2...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e8add320-90fb-540a-99ce-873fb0cb1a16
DOI: 10.22541/au.171826099.94757583/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A case report of congenital dyserythropoietic anemia type II with a novel SEC23B mutation and accompanied by a large segmental deletion and literature reviewDOI 10.22541/au.171826099.94757583/v1Read

A case report of congenital dyserythropoietic anemia type II with a novel SEC23B mutation and accompanied by a large segmental deletion and literature reviewSemantic proximity Read

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.Semantic proximity Read

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.Semantic proximity Read

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Semantic proximity Read

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.Semantic proximity Read

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

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

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.Semantic proximity Read

[Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey].Semantic proximity Read

Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.Semantic proximity Read

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

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.Semantic proximity Read