颅面骨畸形基因学研究进展  

Advances in Genetics of Craniofacial Bone Deformities

作　　者：黄元亮 滕利 HUANG Yuanliang;TENG Li(Plastic Surgery Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100144,China.)

机构地区：[1]中国医学科学院北京协和医学院整形外科医院,北京市100144

出　　处：《组织工程与重建外科杂志》2020年第5期415-417,共3页Journal of Tissue Engineering and Reconstructive Surgery

摘　　要：颅面骨畸形是颅面外科基因学研究的重点。颅面骨畸形的致病突变基因及相关致病因素现已逐渐明确,针对突变基因的分子治疗亦取得一定的进展,为颅面骨畸形的早诊断、早治疗奠定了基础。本文针对颅面骨畸形的基因学研究、基因突变的分子治疗进展进行综述。Craniofacial bone deformity is the focus of genetic research in craniofacial surgery. With the development of genetic technology and the continuous deepening of genetic research, the causative mutation genes and related causative factors of craniofacial deformities have gradually become clear, and molecular therapy for mutant genes has also made some progress, and this lays the foundation for the early diagnosis and early treatment of craniofacial bone deformities. In this paper, the genetic studies and the molecular therapies of craniofacial bone deformity were reviewed.

关 键 词：颅面骨畸形 基因突变 分子治疗 颅缝早闭 颅面裂 

分 类 号：R682.11[医药卫生—骨科学]