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Identification of sequence variants associated with severe microtia-astresia by targeted sequencing

BACKGROUND: Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic mutations or genes have been identified in microtia-atresia patients. METHODS:...

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Detalles Bibliográficos
Autores principales: Wang, Pu, Wang, Yibei, Fan, Xinmiao, Liu, Yaping, Fan, Yue, Liu, Tao, Chen, Chongjian, Zhang, Shuyang, Chen, Xiaowei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348636/
https://www.ncbi.nlm.nih.gov/pubmed/30691450
http://dx.doi.org/10.1186/s12920-019-0475-x