The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*)
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O artykule
Article Category: Short communication
Data publikacji: 30 kwi 2021
Zakres stron: 32 - 36
DOI: https://doi.org/10.34763/jmotherandchild.20202403.2021.d-20-00003
Słowa kluczowe
© 2020 Mateusz Dawidziuk et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Mateusz Dawidziuk
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Anna Kutkowska-Kaźmierczak
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Paweł Gawliński
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Wojciech Wiszniewski
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Department of Molecular and Medical Genetics, Oregon Health and Science UniversityPortland, USA
Monika Gos
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Piotr Stawiński
Department of Medical Genetics, Medical University of WarsawWarsaw, Poland
Małgorzata Rydzanicz
Department of Medical Genetics, Medical University of WarsawWarsaw, Poland
Joanna Kosińska
Department of Medical Genetics, Medical University of WarsawWarsaw, Poland
Paweł Własienko
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Olga Malinowska Kordowska
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Magdalena Bartnik-Głaska
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Joanna Bernaciak
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Krzysztof Szczałuba
Department of Medical Genetics, Medical University of WarsawWarsaw, Poland
Monika Bekiesińska-Figatowska
Department of Diagnostic Imaging, Institute of Mother and ChildWarsaw, Poland
Rafał Płoski
Department of Medical Genetics, Medical University of WarsawWarsaw, Poland
Jerzy Bal
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
Sylwia Olimpia Rzońca-Niewczas
Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland