Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

Emanuela Garelli, Paola Quarello, Elisa Giorgio, Adriana Carando, Elisa Menegatti, Cecilia Mancini, Eleonora Di Gregorio, Nicoletta Crescenzio, Orazio Palumbo, Massimo Carella, Paola Dimartino, Tommaso Pippucci, Irma Dianzani, Ugo Ramenghi, Alfredo Brusco

Research output: Contribution to journalArticle

Original languageEnglish
JournalBritish Journal of Haematology
DOIs
Publication statusAccepted/In press - Jan 1 2018

Keywords

  • complete remission
  • Diamond-Blackfan
  • revertant mosaicism
  • RPS19
  • uniparental disomy

ASJC Scopus subject areas

  • Hematology

Cite this

Garelli, E., Quarello, P., Giorgio, E., Carando, A., Menegatti, E., Mancini, C., Di Gregorio, E., Crescenzio, N., Palumbo, O., Carella, M., Dimartino, P., Pippucci, T., Dianzani, I., Ramenghi, U., & Brusco, A. (Accepted/In press). Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation. British Journal of Haematology. https://doi.org/10.1111/bjh.15688