The MED13L Haploinsufficiency Syndrome Associated with De Novo Nonsense Variant (P.GLN1981*)

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 de novo l...

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Publicat a:J Mother Child
Autors principals: 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, Olimpia Rzońca-Niewczas, Sylwia
Format: Artigo
Idioma:Inglês
Publicat: Sciendo 2021
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Review Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8258838/
https://ncbi.nlm.nih.gov/pubmed/33930262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.34763/jmotherandchild.20202403.2021.d-20-00003
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