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Cleidocranial dysplasia: a case report and gene mutation analysis / 华西口腔医学杂志
West China Journal of Stomatology ; (6): 677-680, 2019.
Article in Chinese | WPRIM | ID: wpr-781357
ABSTRACT
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Cleidocranial Dysplasia / Diagnostic Tests, Routine / Core Binding Factor Alpha 1 Subunit / Mutation Limits: Humans Language: Chinese Journal: West China Journal of Stomatology Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Cleidocranial Dysplasia / Diagnostic Tests, Routine / Core Binding Factor Alpha 1 Subunit / Mutation Limits: Humans Language: Chinese Journal: West China Journal of Stomatology Year: 2019 Type: Article