TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

BACKGROUND: Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births. Although TCOF1, POLR1D, and POLR1C, have been identified as the pathogenic genes for about 90% TCS patients, the pathogenic variants of about...

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Detalles Bibliográficos
Autores principales: Fan, Xinmiao, Wang, Yibei, Fan, Yue, Du, Huiqian, Luo, Nana, Zhang, Shuyang, Chen, Xiaowei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631538/
https://www.ncbi.nlm.nih.gov/pubmed/31307516
http://dx.doi.org/10.1186/s13023-019-1136-z

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