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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...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
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 |