A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy.
Angelina BeerRicardo BeckAnne SchedelMalte von BoninJörn MeinelUlrike Anne FriedrichMaria MenzelMeinolf SuttorpSebastian BrennerGuido FitzeBjörn LangeRalf KnöflerJulia HauerFranziska AuerPublished in: Molecular genetics & genomic medicine (2021)
Therefore, we suggest PALB2 p.A1079S as a pathogenic variant potentially contributing to the here observed patient phenotype.