The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)
About this item
Full title
Author / Creator
Dawidziuk, Mateusz , Kutkowska-Kaźmierczak, Anna , Gawliński, Paweł , Wiszniewski, Wojciech , Gos, Monika , Stawiński, Piotr , Rydzanicz, Małgorzata , Kosińska, Joanna , Własienko, Paweł , Malinowska Kordowska, Olga , Bartnik-Głaska, Magdalena , Bernaciak, Joanna , Szczałuba, Krzysztof , Bekiesińska-Figatowska, Monika , Płoski, Rafał , Bal, Jerzy and Olimpia Rzońca-Niewczas, Sylwia
Publisher
Poland: Sciendo
Journal title
Language
English
Formats
Publication information
Publisher
Poland: Sciendo
Subjects
More information
Scope and Contents
Contents
The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In this work, we report a patient with a novel
likely pathogenic variant c.5941C>T, p.(Gln1981*) in the...
Alternative Titles
Full title
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)
Authors, Artists and Contributors
Author / Creator
Kutkowska-Kaźmierczak, Anna
Gawliński, Paweł
Wiszniewski, Wojciech
Gos, Monika
Stawiński, Piotr
Rydzanicz, Małgorzata
Kosińska, Joanna
Własienko, Paweł
Malinowska Kordowska, Olga
Bartnik-Głaska, Magdalena
Bernaciak, Joanna
Szczałuba, Krzysztof
Bekiesińska-Figatowska, Monika
Płoski, Rafał
Bal, Jerzy
Olimpia Rzońca-Niewczas, Sylwia
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8258838
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8258838
Other Identifiers
ISSN
2719-6488
E-ISSN
2719-535X
DOI
10.34763/jmotherandchild.20202403.2021.d-20-00003
