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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley 2021-02-01
Schriftenreihe:Molecular Genetics & Genomic Medicine
Schlagworte:
conductive hearing loss
craniofacial dysplasia
TCOF1
Treacher Collins syndrome
Online-Zugang:https://doi.org/10.1002/mgg3.1573
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