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

oleh: Omid Daneshjoo, Pirooz Ebrahimi, Leila B. Salehi, Antonio Pizzuti, Masoud Garshasbi

Format: Article
Diterbitkan: Wiley 2020-12-01

Deskripsi

Abstract 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.