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

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 reason, the molecular diagnostic process is complex and not always extended to all the FA genes, preventing the characterization of individuals belonging to rare groups.



Titolo: Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing
Autori: 
NICCHIA, ELENA
GRECO, CHIARA
BOTTEGA, ROBERTA
FALESCHINI, MICHELA
BONIN, Serena
SAVOIA, ANNA
mostra contributor esterni 
Data di pubblicazione: 2015
Rivista: 
BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY  
Abstract: 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 reason, the molecular diagnostic process is complex and not always extended to all the FA genes, preventing the characterization of individuals belonging to rare groups.
Handle: http://hdl.handle.net/11368/2841117
Digital Object Identifier (DOI): http://dx.doi.org/10.1002/bdra.23388
URL: http://onlinelibrary.wiley.com/doi/10.1002/bdra.23388/abstract;jsessionid=EDDAF890EE62903FF93B8A625279D7B9.f03t04
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