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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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genomics
Auteurs principaux: Wang, Pu, Wang, Yibei, Fan, Xinmiao, Liu, Yaping, Fan, Yue, Liu, Tao, Chen, Chongjian, Zhang, Shuyang, Chen, Xiaowei
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6348636/
https://ncbi.nlm.nih.gov/pubmed/30691450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0475-x
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