1.
Hua Xi Kou Qiang Yi Xue Za Zhi
; 40(3): 360-364, 2022 May 25.
Artigo
em Inglês, Zh
| MEDLINE
| ID: mdl-38597020
RESUMO
Cleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1â¶1 000 000. In this study, a case of cranio-clavicular dysplasia was reported, and related literature was reviewed. RUNX2 6p21.1 NM_001024630.3 Exon4 c.534dupAp.(Val179fs) was identified to be a new frameshift mutation by gene analysis.
2.
Zhonghua Kou Qiang Yi Xue Za Zhi
; 49(9): 574-6, 2014 Sep.
Artigo
em Zh
| MEDLINE
| ID: mdl-25476223