Identification Of A Novel Runx2 Gene Mutation And Early Diagnosis Of Ccd In A Cleidocranial Dysplasia Suspected Iranian Family
CLINICAL CASE REPORTS(2020)
摘要
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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关键词
autosomal dominant,cleidocranial dysplasia,RUNX2 gene,sequencing
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