De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly
Authors
Š Stangler Herodež
Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, Slovenia
Medical Faculty, University of Maribor, Maribor, Slovenia
N Marčun Varda
Medical Faculty, University of Maribor, Maribor, Slovenia
Division of Paediatrics, University Medical Centre Maribor, Maribor, Slovenia
Kokalj Vokač N
Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, Slovenia
Medical Faculty, University of Maribor, Maribor, Slovenia
D Krgović
Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, Slovenia
Medical Faculty, University of Maribor, Maribor, Slovenia
DOI: https://doi.org/10.2478/bjmg-2020-0008 | Journal eISSN: 2199-5761
Language: English
Page range: 83 - 90
Published on: Aug 26, 2020
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Related subjects:
© 2020 Š Stangler Herodež, N Marčun Varda, Kokalj Vokač N, D Krgović, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.