Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome

Detalles Bibliográficos
Autores principales: Bastaki, Fatma, Saif, Fatima, Ali, Mahmoud T. Al, Hamzeh, Abdul Rezzak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2016
Materias:
Clinical Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800924/
https://www.ncbi.nlm.nih.gov/pubmed/26837408
http://dx.doi.org/10.15537/smj.2016.2.13593
_version_ 1782422523678294016
author Bastaki, Fatma
Saif, Fatima
Ali, Mahmoud T. Al
Hamzeh, Abdul Rezzak
author_facet Bastaki, Fatma
Saif, Fatima
Ali, Mahmoud T. Al
Hamzeh, Abdul Rezzak
author_sort Bastaki, Fatma
collection PubMed
description
format Online
Article
Text
id pubmed-4800924
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Saudi Medical Journal
record_format MEDLINE/PubMed
spelling pubmed-48009242016-04-01 Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome Bastaki, Fatma Saif, Fatima Ali, Mahmoud T. Al Hamzeh, Abdul Rezzak Saudi Med J Clinical Note Saudi Medical Journal 2016-02 /pmc/articles/PMC4800924/ /pubmed/26837408 http://dx.doi.org/10.15537/smj.2016.2.13593 Text en Copyright: © Saudi Medical Journal http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Note
Bastaki, Fatma
Saif, Fatima
Ali, Mahmoud T. Al
Hamzeh, Abdul Rezzak
Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome
title Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome
title_full Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome
title_fullStr Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome
title_full_unstemmed Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome
title_short Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome
title_sort molecular and clinical characterization of a nonsense cdkn1c mutation in an emirati patient with beckwith-wiedemann syndrome
topic Clinical Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800924/
https://www.ncbi.nlm.nih.gov/pubmed/26837408
http://dx.doi.org/10.15537/smj.2016.2.13593
work_keys_str_mv AT bastakifatma molecularandclinicalcharacterizationofanonsensecdkn1cmutationinanemiratipatientwithbeckwithwiedemannsyndrome
AT saiffatima molecularandclinicalcharacterizationofanonsensecdkn1cmutationinanemiratipatientwithbeckwithwiedemannsyndrome
AT alimahmoudtal molecularandclinicalcharacterizationofanonsensecdkn1cmutationinanemiratipatientwithbeckwithwiedemannsyndrome
AT hamzehabdulrezzak molecularandclinicalcharacterizationofanonsensecdkn1cmutationinanemiratipatientwithbeckwithwiedemannsyndrome

Ejemplares similares