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Article

Genetic Study of Fanconi Anemia in Infancy Revealed FANCI Mutations and Defective ALDH2 Variant: A Case Report.

Journal of pediatric hematology/oncology - 1 Mar 2022

Urata Takayo, Imamura Toshihiko, Osone Shinya, Muramatsu Hideki, Takahashi Yoshiyuki, Hosoi Hajime

Abstract excerpt

Fanconi anemia (FA) is a rare genetic disorder that manifests as congenital abnormalities and bone marrow failure (BMF). Most patients with FA present with BMF within the first decade of life; however, neonate and early infancy BMF is rare. Recent studies have shown that a defective aldehyde dehydrogenase 2 (ALDH2) variant accelerates BMF development in patients with FA. Herein, we described an infant case of FA...

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PMID: 34310468
DOI: 10.1097/MPH.0000000000002254

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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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