Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia

Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia

Abstract Background Microtia is a congenital anomaly of ear that ranges in severity from mild structural abnormalities to complete absence of the outer ears. Concha-type microtia is considered to be a mild form. The H6 family homeobox 1 transcription factor gene (HMX1) plays an important role in cra...

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Bibliographic Details
Main Authors: Nuo Si, Xiaolu Meng, Xiaosheng Lu, Zhe Liu, Zhan Qi, Lianqing Wang, Chuan Li, Meirong Yang, Ye Zhang, Changchen Wang, Peipei Guo, Lingdong Zhu, Lei Liu, Zhengyong Li, Zhenyu Zhang, Zhen Cai, Bo Pan, Haiyue Jiang, Xue Zhang
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Journal of Translational Medicine
Subjects:
Microtia
Duplication
HMX1
Long range enhancer
Conserved non-coding elements
Online Access:http://link.springer.com/article/10.1186/s12967-020-02409-6

Internet

http://link.springer.com/article/10.1186/s12967-020-02409-6

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