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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 Garshasbi
Published 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.
Keyphrases
  • transcription factor
  • bioinformatics analysis
  • pulmonary embolism