Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

por Beyltjens, Tessi, Boudin, Eveline, Revencu, Nicole, Boeckx, Nele, Bertrand, Miriam, Schütz, Leon, Haack, Tobias B, Weber, Axel, Biliouri, Eleni, Vinkšel, Mateja, Zagožen, Anja, Peterlin, Borut, Pai, Shashidhar, Telegrafi, Aida, Henderson, Lindsay B, Ells, Courtney, Turner, Lesley, Wuyts, Wim, Van Hul, Wim, Hendrickx, Gretl, Mortier, Geert R
Publicado 2023

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients

por Schroeder, Christopher, Faust, Ulrike, Krauße, Luisa, Liebmann, Alexandra, Abele, Michael, Demidov, German, Schütz, Leon, Kelemen, Olga, Pohle, Alexandra, Gauß, Silja, Sturm, Marc, Roggia, Cristiana, Streiter, Monika, Buchert, Rebecca, Armenau-Ebinger, Sorin, Nann, Dominik, Beschorner, Rudi, Handgretinger, Rupert, Ebinger, Martin, Lang, Peter, Holzer, Ursula, Skokowa, Julia, Ossowski, Stephan, Haack, Tobias B., Mau-Holzmann, Ulrike A., Dufke, Andreas, Riess, Olaf, Brecht, Ines B.
Publicado 2023