Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
Emanuela GarelliPaola QuarelloElisa GiorgioAdriana CarandoElisa MenegattiCecilia ManciniEleonora Di GregorioNicoletta CrescenzioOrazio PalumboMassimo CarellaPaola DimartinoTommaso PippucciIrma DianzaniUgo RamenghiAlfredo BruscoPublished in: British journal of haematology (2018)