Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family.
Omid DaneshjooPirooz EbrahimiLeila B SalehiAntonio PizzutiMasoud GarshasbiPublished in: Clinical case reports (2020)
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.