First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.

Perla Bandini Nina BorràsEugenia Fernandez MellidLaura Martin-FernandezPaula Melero ValentínNatalia ComesLorena RamírezPatricia Cadahia FernándezMatilde Rodríguez RuizManuel Mateo Perez EncinasFrancisco Vidal Irene Corrales

Published in: British journal of haematology (2023)

Keyphrases

bone marrow
mesenchymal stem cells
copy number
dna repair
genome wide
case report
genome wide identification
dna methylation
dna damage
oxidative stress
transcription factor