摘要
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。
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.
作者
郭凌燕
徐珮琼
陈林林
Guo Lingyan;Xu Peiqiong;Chen Linlin(Dept.of Oral and Maxillofacial Surgery,Affiliated Stomatological Hospital of Nanchang University,The Key Laboratory of Oral Biomedicine in Jiangxi Province,Nanchang 330006,China;Dept.of Orthodontics,Affiliated Stomatological Hospital of Nanchang University,The Key Laboratory of Oral Biomedicine in Jiangxi Province,Nanchang 330006,China)
出处
《华西口腔医学杂志》
CAS
CSCD
北大核心
2019年第6期677-680,共4页
West China Journal of Stomatology
