[Cleidocranial dysplasia: a case report and gene mutation analysis].

Abstract excerpt

Cleidocranial dysplasia is a rare autosomal dominant hereditary disease characterized by abnormal skeletal and dental development. In this work, a case of cleidocranial dysplasia is reported, and a new frameshift mutation is confirmed by gene detection. 颅锁骨发育不全是一种罕见的常染色体显性遗传疾病，以骨骼及牙齿发育异常为特征。本文对1例颅锁骨发育不全病例进行报道，并经基因检测，证实了一个新的移码突变。.

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