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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*) Cover

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*)

Journal of Mother and Child
Volume 24 (2020): Issue 3 (September 2020)
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Open Access
|Apr 2021
Authors

Authors

Mateusz Dawidziuk

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Anna Kutkowska-Kaźmierczak

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Paweł Gawliński

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Wojciech Wiszniewski

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, USA

Monika Gos

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Piotr Stawiński

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Małgorzata Rydzanicz

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Joanna Kosińska

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Paweł Własienko

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Olga Malinowska Kordowska

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Magdalena Bartnik-Głaska

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Joanna Bernaciak

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Krzysztof Szczałuba

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Monika Bekiesińska-Figatowska

Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland

Rafał Płoski

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Jerzy Bal

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Sylwia Olimpia Rzońca-Niewczas

sylwia.rzonca@imid.med.pl

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
DOI: https://doi.org/10.34763/jmotherandchild.20202403.2021.d-20-00003 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
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Language: English
Page range: 32 - 36
Published on: Apr 30, 2021
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
MED13L,
intellectual disability,
loss-of-function mutation,
haploinsufficiency
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health

© 2021 Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński, Wojciech Wiszniewski, Monika Gos, Piotr Stawiński, Małgorzata Rydzanicz, Joanna Kosińska, Paweł Własienko, Olga Malinowska Kordowska, Magdalena Bartnik-Głaska, Joanna Bernaciak, Krzysztof Szczałuba, Monika Bekiesińska-Figatowska, Rafał Płoski, Jerzy Bal, Sylwia Olimpia Rzońca-Niewczas, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 24 (2020): Issue 3 (September 2020)
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