Genotype-phenotype associations in Fanconi anemia: a literature review
MO Fiesco-Roa, N Giri, LJ McReynolds, AF Best… - Blood reviews, 2019 - Elsevier
Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital
abnormalities, bone marrow failure, and cancer. Classical and most frequent congenital
abnormalities include all those seen in VACTERL-H association and those described under
the PHENOS acronym. Pathogenic variants in at least 22 genes are associated with FA,
which code for proteins that comprise the FA/BRCA DNA repair pathway. We reviewed 187
publications and 1101 cases of FA in which the gene or complementation group was …
abnormalities, bone marrow failure, and cancer. Classical and most frequent congenital
abnormalities include all those seen in VACTERL-H association and those described under
the PHENOS acronym. Pathogenic variants in at least 22 genes are associated with FA,
which code for proteins that comprise the FA/BRCA DNA repair pathway. We reviewed 187
publications and 1101 cases of FA in which the gene or complementation group was …