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De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly Cover

De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly

Balkan Journal of Medical Genetics
Volume 23 (2020): Issue 1 (June 2020)
By: Š Stangler Herodež,  N Marčun Varda,  Kokalj Vokač N and  D Krgović  
Open Access
|Aug 2020

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

danijela.krgovicl@um.si

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
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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:
Congenital heart anomalies (CHAs),
Genetics,
gene,
Kabuki syndrome (KS),
Next generation sequencing (NGS) analysis
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 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.

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