Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients

Abstract Background Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features presenting as hypoplasia of the zygom...

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主要な著者:	Zhaoyu Pan, Hongen Xu, Bei Chen, Yongan Tian, Linlin Zhang, Sen Zhang, Danhua Liu, Huanfei Liu, Ruijun Li, Xinxin Hu, Jingyuan Guan, Wenxue Tang, Wei Lu
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2021-02-01
シリーズ:	Molecular Genetics & Genomic Medicine
主題:	conductive hearing loss craniofacial dysplasia TCOF1 Treacher Collins syndrome
オンライン･アクセス:	https://doi.org/10.1002/mgg3.1573
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