
Molecular defects identified by whole exome sequencing in a child with Fanconi anemia
Keywords: FA, Fanconi anemia; BRCA2/FANCD1, breast cancer 2/Fanconi anemia group D1; PALB2/FANCN, partner and localizer of BRCA2/Fanconi anemia group N; ICLs, interstrand cross-linking agents; MMC, mitomycin C; DEB, diepoxybutane; PGD, pre-implantation genetic diag