Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family

This research resulted in the identification and submission of a novel RUNX2 gene mutation in the affected members of the studied pedigree. Mutation screening is an effective method for the early diagnosis of CCD in the affected individuals.

Detalles Bibliográficos
Autores principales: Daneshjoo, Omid, Ebrahimi, Pirooz, Salehi, Leila B., Pizzuti, Antonio, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752336/
https://www.ncbi.nlm.nih.gov/pubmed/33363735
http://dx.doi.org/10.1002/ccr3.2825
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author Daneshjoo, Omid
Ebrahimi, Pirooz
Salehi, Leila B.
Pizzuti, Antonio
Garshasbi, Masoud
author_facet Daneshjoo, Omid
Ebrahimi, Pirooz
Salehi, Leila B.
Pizzuti, Antonio
Garshasbi, Masoud
author_sort Daneshjoo, Omid
collection PubMed
description This research resulted in the identification and submission of a novel RUNX2 gene mutation in the affected members of the studied pedigree. Mutation screening is an effective method for the early diagnosis of CCD in the affected individuals.
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spelling pubmed-77523362020-12-23 Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family Daneshjoo, Omid Ebrahimi, Pirooz Salehi, Leila B. Pizzuti, Antonio Garshasbi, Masoud Clin Case Rep Case Reports This research resulted in the identification and submission of a novel RUNX2 gene mutation in the affected members of the studied pedigree. Mutation screening is an effective method for the early diagnosis of CCD in the affected individuals. John Wiley and Sons Inc. 2020-04-03 /pmc/articles/PMC7752336/ /pubmed/33363735 http://dx.doi.org/10.1002/ccr3.2825 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://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
Daneshjoo, Omid
Ebrahimi, Pirooz
Salehi, Leila B.
Pizzuti, Antonio
Garshasbi, Masoud
Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family
title Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family
title_full Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family
title_fullStr Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family
title_full_unstemmed Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family
title_short Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family
title_sort identification of a novel runx2 gene mutation and early diagnosis of ccd in a cleidocranial dysplasia suspected iranian family
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752336/
https://www.ncbi.nlm.nih.gov/pubmed/33363735
http://dx.doi.org/10.1002/ccr3.2825
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