Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

doi:10.3324/haematol.2014.104224

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Article

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

Haematologica - 1 Jun 2014

De Rocco Daniela, Bottega Roberta, Cappelli Enrico, Cavani Simona, Criscuolo Maria, Nicchia Elena, Corsolini Fabio, Greco Chiara, Borriello Adriana, Svahn Johanna, Pillon Marta, Mecucci Cristina, Casazza Gabriella, Verzegnassi Federico, Cugno Chiara, Locasciulli Anna, Farruggia Piero, Longoni Daniela, Ramenghi Ugo, Barberi Walter, Tucci Fabio, Perrotta Silverio, Grammatico Paola, Hanenberg Helmut, Della Ragione Fulvio, Dufour Carlo, Savoia Anna

Abstract excerpt

Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity with mutations in at least 16 different genes. In this paper, we report the mutations identified in 100 unrelated probands enrolled into the...

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Identifiers

PMID: 24584348
DOI: 10.3324/haematol.2014.104224
PMCID: PMC4040906

Genes

FANCA
FANCB
FANCC
FANCD2
FANCG

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