Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

European journal of haematology - 1 Sept 2018

Moreno-Carralero María-Isabel, Horta-Herrera Saul, Morado-Arias Marta, Ricard-Andrés María-Pilar, Lemes-Castellano Angelina, Abio-Calvete Mariola, Cedena-Romero María-Teresa, González-Fernández Fernando-Ataulfo, Llorente-González Laura, Periago-Peralta Adela-María, de-la-Iglesia-Íñigo Silvia, Méndez Manuel, Morán-Jiménez María-José

Abstract excerpt

INTRODUCTION: Congenital dyserythropoietic anemias (CDA) are characterized by hyporegenerative anemia with inadequate reticulocyte values, ineffective erythropoiesis, and hemolysis. Distinctive morphology of bone marrow erythroblasts and identification of causative genes allow classification into 4 types caused by variants in CDAN1, c15orf41, SEC23B, KIF23, and KLF1 genes. OBJECTIVE: Identify pathogenic variants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over
Share to Anemia, Dyserythropoietic, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Databases, Nucleic Acid

Share to Genetic Association Studies

Share to Glycoproteins

Share to High-Throughput Nucleotide Sequencing

Share to Nuclear Proteins

Source

Identifiers

PMID: 29901818
DOI: 10.1111/ejh.13112

Genes

CDA
CDAN1
KLF1
ALAS2
KIF23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).PMID 29901818Read ↗

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 ↗

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

Congenital dyserythropoietic anemias.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 ↗

Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias.Semantic proximity Read ↗

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in 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 ↗

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

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

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

Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.Semantic proximity Read ↗

Congenital dyserythropoietic anemia in China: a case report from two families and a review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.