Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p453 | Other diseases of bone and mineral metabolism | ECTS2016

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

Zhang Cong , Jiang Yan , Xing Xiaoping , Li Mei , Wang Ou , Xia Weibo

Background: Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome characterized by delayed closure of cranial sutures, remained-open fontanels, hypoplastic clavicles, abnormal dentition including retention of the primary teeth and delayed eruption of secondary dentition, and short stature. The responsible gene for CCD is RUNX2, which encodes an important transcription factor for osteoblast development and bone formation. CCD is caused by t...