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Journals
Journal of Mother and Child
Volume 24 (2020): Issue 3 (September 2020)
Open Access
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
and
Sylwia Olimpia Rzońca-Niewczas
Sylwia Olimpia Rzońca-Niewczas
| Apr 30, 2021
Journal of Mother and Child
Volume 24 (2020): Issue 3 (September 2020)
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Article Category:
Short communication
Published Online:
Apr 30, 2021
Page range:
32 - 36
DOI:
https://doi.org/10.34763/jmotherandchild.20202403.2021.d-20-00003
Keywords
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.