Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia.

by Ondřej Bonczek, Peter Bielik, Přemysl Krejčí, Tomáš Zeman, Lýdie Izakovičová-Hollá, Jana Šoukalová, Jiří Vaněk, Tereza Gerguri, Vladimir J Balcar, Omar Šerý
Published 2018-01-01

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

by Renata Formankova, Veronika Kanderova, Marketa Rackova, Michael Svaton, Tomas Brdicka, Petr Riha, Petra Keslova, Ester Mejstrikova, Marketa Zaliova, Tomas Freiberger, Tomas Freiberger, Tomas Freiberger, Hana Grombirikova, Hana Grombirikova, Zuzana Zemanova, Marcela Vlkova, Marcela Vlkova, Filip Fencl, Ivana Copova, Jiri Bronsky, Petr Jabandziev, Petr Jabandziev, Petr Jabandziev, Petr Sedlacek, Jana Soukalova, Jana Soukalova, Ondrej Zapletal, Jan Stary, Jan Trka, Tomas Kalina, Karolina Skvarova Kramarzova, Eva Hlavackova, Eva Hlavackova, Jiri Litzman, Jiri Litzman, Eva Fronkova
Published 2019-09-01