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Article

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.

Birth defects research. Part A, Clinical and molecular teratology - 1 Dec 2015

Nicchia Elena, Benedicenti Francesco, De Rocco Daniela, Greco Chiara, Bottega Roberta, Inzana Francesca, Faleschini Michela, Bonin Serena, Cappelli Enrico, Mogni Massimo, Stanzial Franco, Svahn Johanna, Dufour Carlo, Savoia Anna

Abstract excerpt

BACKGROUND: Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations, aplastic anemia and increased risk of developing malignancies. FA is genetically heterogeneous as it is caused by at least 17 different genes. Among these, FANCA, FANCC, and FANCG account for approximately 85% of the patients whereas the remaining genes are mutated in only a small percentage of cases. For this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26033879
DOI: 10.1002/bdra.23388

Genes

FANCF
FANCA
FANCC
FANCG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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