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Article

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

Gene - 10 Nov 2013

Zheng Zhaojing, Geng Juan, Yao Ru-En, Li Caihua, Ying Daming, Shen Yongnian, Ying Lei, Yu Yongguo, Fu Qihua

Abstract excerpt

Fanconi anemia is a rare genetic disease characterized by bone marrow failure, multiple congenital malformations, and an increased susceptibility to malignancy. At least 15 genes have been identified that are involved in the pathogenesis of Fanconi anemia. However, it is still a challenge to assign the complementation group and to characterize the molecular defects in patients with Fanconi anemia. In the current...

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Identifiers

PMID: 23973728
DOI: 10.1016/j.gene.2013.08.031

Genes

FANCA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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