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Article

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.

International journal of hematology - 1 Feb 2024

Zheng Jiajia, Gao Li, Liu Hu, Xiao Peifang, Lu Jun, Li Jie, Wu Shuiyan, Cheng Shengqin, Bian Xinni, Du Zhizhuo, Kong Lingjun, Hu Shaoyan, Fan Junjie

Abstract excerpt

Congenital dyserythropoietic anemia type II (CDA II) refers to a group of extremely rare heterozygous disorders characterized by ineffective erythropoiesis and morphological abnormalities of erythrocytes and bone marrow erythroblasts. Six types of CDA with differing heterogenous genetic mutations have been identified to date. Due to the genetic and clinical heterogeneity of CDA, accurate diagnosis can be very...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38127226
DOI: 10.1007/s12185-023-03676-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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