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Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D’Angelantonio, Daniela; Grammatico, Paola

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

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  • Media type: E-Article
  • Title: Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
  • Contributor: Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D’Angelantonio, Daniela; Grammatico, Paola
  • imprint: Springer Science and Business Media LLC, 2023
  • Published in: European Journal of Human Genetics
  • Language: English
  • DOI: 10.1038/s41431-022-01270-z
  • ISSN: 1018-4813; 1476-5438
  • Origination:
  • Footnote:
  • Access State: Open Access