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Article

Diagnosis of Fanconi anemia in children with atypical clinical features: a primary study.

Chinese medical journal - 1 Dec 2013

Liu Rong, Hu Tao, Li Jun-hui, Liang Chao, Gu Wei-yue, Shi Xiao-dong, Wang Hong-xing

Abstract excerpt

BACKGROUND: Fanconi anemia is a severe congenital disorder associated with mutations in a cluster of genes responsible for DNA repair. Arriving at an accurate and timely diagnosis can be difficult in cases of Fanconi anemia with atypical clinical features. It is very important to increase the rate of accurate diagnosis for such cases in a clinical setting. The purpose of this study is to explore the clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24286411

Genes

FANCA
FANCD2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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