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

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

Abstract 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 o...

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Bibliographic Details
Main Authors: Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen
Format: Article
Language:English
Published: BMC 2019-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Treacher Collins syndrome (TCS)
Whole-exome sequencing
TCOF1
Bone conduction hearing rehabilitation
Online Access:http://link.springer.com/article/10.1186/s13023-019-1136-z

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http://link.springer.com/article/10.1186/s13023-019-1136-z

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