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Article

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.

Italian journal of pediatrics - 8 May 2015

Solomon Ponnumony John, Margaret Priya, Rajendran Ramya, Ramalingam Revathy, Menezes Godfred A, Shirley Alph S, Lee Seung Jun, Seong Moon-Woo, Park Sung Sup, Seol Dodam, Seo Soo Hyun

Abstract excerpt

Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have been found to be mutated in FA patients are called FANC. To date 16 distinct FANC genes have been reported. Among these, mutations in FANCA are the most frequent among FA patients worldwide which account for...

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Identifiers

PMID: 25953249
DOI: 10.1186/s13052-015-0142-6
PMCID: PMC4438458

Genes

FANCA

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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