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

被引：0
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作者：
Xinmiao Fan
Yibei Wang
Yue Fan
Huiqian Du
Nana Luo
Shuyang Zhang
Xiaowei Chen
机构：
[1] Peking Union Medical College Hospital,Department of Otolaryngology
[2] Peking Union Medical College and Chinese Academy of Medical Sciences,Department of Cardiology
[3] Allwegene Technology Inc,undefined
[4] Allwegene Technology Inc,undefined
[5] Peking Union Medical College Hospital,undefined
[6] Peking Union Medical College and Chinese Academy of Medical Sciences,undefined
来源：
Orphanet Journal of Rare Diseases | / 14卷
关键词：
Treacher Collins syndrome (TCS); Whole-exome sequencing; Bone conduction hearing rehabilitation;
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