Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome

Exome sequencing revealed the cause of our 35‐year‐old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2.

Detalles Bibliográficos
Autores principales: Arvio, Maria, Haanpää, Maria, Pohjola, Pia, Lähdetie, Jaana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8380086/
https://www.ncbi.nlm.nih.gov/pubmed/34457282
http://dx.doi.org/10.1002/ccr3.4602
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author Arvio, Maria
Haanpää, Maria
Pohjola, Pia
Lähdetie, Jaana
author_facet Arvio, Maria
Haanpää, Maria
Pohjola, Pia
Lähdetie, Jaana
author_sort Arvio, Maria
collection PubMed
description Exome sequencing revealed the cause of our 35‐year‐old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2.
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spelling pubmed-83800862021-08-27 Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome Arvio, Maria Haanpää, Maria Pohjola, Pia Lähdetie, Jaana Clin Case Rep Case Reports Exome sequencing revealed the cause of our 35‐year‐old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2. John Wiley and Sons Inc. 2021-08-21 /pmc/articles/PMC8380086/ /pubmed/34457282 http://dx.doi.org/10.1002/ccr3.4602 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Arvio, Maria
Haanpää, Maria
Pohjola, Pia
Lähdetie, Jaana
Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
title Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
title_full Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
title_fullStr Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
title_full_unstemmed Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
title_short Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
title_sort report of a novel missense mutation in the mecp2 gene in a middle‐aged man with intellectual disability syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8380086/
https://www.ncbi.nlm.nih.gov/pubmed/34457282
http://dx.doi.org/10.1002/ccr3.4602
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