The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition associated with SMARCA2 gene mutations. Clinical diagnosis is challenging as its features evolve with time. The 20 years follow‐up of our NCBRS patient, with a previously unreported SMARCA2 mutation, illustrates the syndrome's na...

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Detalles Bibliográficos
Autores principales: Ejaz, Resham, Babul‐Hirji, Riyana, Chitayat, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831382/
https://www.ncbi.nlm.nih.gov/pubmed/27099726
http://dx.doi.org/10.1002/ccr3.425
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author Ejaz, Resham
Babul‐Hirji, Riyana
Chitayat, David
author_facet Ejaz, Resham
Babul‐Hirji, Riyana
Chitayat, David
author_sort Ejaz, Resham
collection PubMed
description Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition associated with SMARCA2 gene mutations. Clinical diagnosis is challenging as its features evolve with time. The 20 years follow‐up of our NCBRS patient, with a previously unreported SMARCA2 mutation, illustrates the syndrome's natural history and its clinical variability, especially in a milder form.
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spelling pubmed-48313822016-04-20 The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up Ejaz, Resham Babul‐Hirji, Riyana Chitayat, David Clin Case Rep Case Reports Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition associated with SMARCA2 gene mutations. Clinical diagnosis is challenging as its features evolve with time. The 20 years follow‐up of our NCBRS patient, with a previously unreported SMARCA2 mutation, illustrates the syndrome's natural history and its clinical variability, especially in a milder form. John Wiley and Sons Inc. 2016-02-28 /pmc/articles/PMC4831382/ /pubmed/27099726 http://dx.doi.org/10.1002/ccr3.425 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Ejaz, Resham
Babul‐Hirji, Riyana
Chitayat, David
The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up
title The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up
title_full The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up
title_fullStr The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up
title_full_unstemmed The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up
title_short The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up
title_sort evolving features of nicolaides–baraitser syndrome – a clinical report of a 20‐year follow‐up
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831382/
https://www.ncbi.nlm.nih.gov/pubmed/27099726
http://dx.doi.org/10.1002/ccr3.425
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