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
Descripción
Sumario: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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