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 Zh
| WPRIM
| ID: wpr-781357
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Cleidocranial Dysplasia
/
Diagnostic Tests, Routine
/
Core Binding Factor Alpha 1 Subunit
/
Mutation
Limits:
Humans
Language:
Zh
Journal:
West China Journal of Stomatology
Year:
2019
Type:
Article