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

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 craniofacia...

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Detalles Bibliográficos
Autores principales: Si, Nuo, Meng, Xiaolu, Lu, Xiaosheng, Liu, Zhe, Qi, Zhan, Wang, Lianqing, Li, Chuan, Yang, Meirong, Zhang, Ye, Wang, Changchen, Guo, Peipei, Zhu, Lingdong, Liu, Lei, Li, Zhengyong, Zhang, Zhenyu, Cai, Zhen, Pan, Bo, Jiang, Haiyue, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302384/
https://www.ncbi.nlm.nih.gov/pubmed/32552830
http://dx.doi.org/10.1186/s12967-020-02409-6

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