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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 Auer
Published in: Molecular genetics & genomic medicine (2021)
Therefore, we suggest PALB2 p.A1079S as a pathogenic variant potentially contributing to the here observed patient phenotype.
Keyphrases
  • cell cycle arrest
  • cell death
  • pi k akt
  • case report
  • dna repair
  • weight gain
  • signaling pathway
  • dna damage
  • cell proliferation
  • oxidative stress