Cleidocranial dysplasia: a case report and gene mutation analysis.

Author: Ling-Yan GUO ¹ ; Pei-Qiong XU ² ; Lin-Lin CHEN ¹
Author Information

1. Dept. of Oral and Maxillofacial Surgery, Affiliated Stomatological Hospital of Nanchang University, The Key Laboratory of Oral Biomedicine in Jiangxi Province, Nanchang 330006, China.
2. Dept. of Orthodontics, Affiliated Stomatological Hospital of Nanchang University, The Key Laboratory of Oral Biomedicine in Jiangxi Province, Nanchang 330006, China.
Publication Type:Case Reports
Keywords: autosomal dominant inheritance; cleidocranial dysplasia; gene mutation
MeSH: Cleidocranial Dysplasia; Core Binding Factor Alpha 1 Subunit; Diagnostic Tests, Routine; Humans; Mutation
From: West China Journal of Stomatology 2019;37(6):677-680
CountryChina
Language:Chinese
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.