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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Váldodahkkit:	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
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Wiley 2021-02-01
Ráidu:	Molecular Genetics & Genomic Medicine
Fáttát:	conductive hearing loss craniofacial dysplasia TCOF1 Treacher Collins syndrome
Liŋkkat:	https://doi.org/10.1002/mgg3.1573
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