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Journaux
Journal of Mother and Child
Édition 24 (2020): Edition 3 (September 2020)
Accès libre
The
MED13L
haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*)
Mateusz Dawidziuk
Mateusz Dawidziuk
,
Anna Kutkowska-Kaźmierczak
Anna Kutkowska-Kaźmierczak
,
Paweł Gawliński
Paweł Gawliński
,
Wojciech Wiszniewski
Wojciech Wiszniewski
,
Monika Gos
Monika Gos
,
Piotr Stawiński
Piotr Stawiński
,
Małgorzata Rydzanicz
Małgorzata Rydzanicz
,
Joanna Kosińska
Joanna Kosińska
,
Paweł Własienko
Paweł Własienko
,
Olga Malinowska Kordowska
Olga Malinowska Kordowska
,
Magdalena Bartnik-Głaska
Magdalena Bartnik-Głaska
,
Joanna Bernaciak
Joanna Bernaciak
,
Krzysztof Szczałuba
Krzysztof Szczałuba
,
Monika Bekiesińska-Figatowska
Monika Bekiesińska-Figatowska
,
Rafał Płoski
Rafał Płoski
,
Jerzy Bal
Jerzy Bal
et
Sylwia Olimpia Rzońca-Niewczas
Sylwia Olimpia Rzońca-Niewczas
| 30 avr. 2021
Journal of Mother and Child
Édition 24 (2020): Edition 3 (September 2020)
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Article Category:
Short communication
Publié en ligne:
30 avr. 2021
Pages:
32 - 36
DOI:
https://doi.org/10.34763/jmotherandchild.20202403.2021.d-20-00003
Mots clés
MED13L
,
intellectual disability
,
loss-of-function mutation
,
haploinsufficiency
© 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 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
Department of Medical Genetics, Institute of Mother and Child
Warsaw, Poland