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

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 zygomatic com...

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Detalles Bibliográficos
Autores principales: Pan, Zhaoyu, Xu, Hongen, Chen, Bei, Tian, Yongan, Zhang, Linlin, Zhang, Sen, Liu, Danhua, Liu, Huanfei, Li, Ruijun, Hu, Xinxin, Guan, Jingyuan, Tang, Wenxue, Lu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077114/
https://www.ncbi.nlm.nih.gov/pubmed/33332773
http://dx.doi.org/10.1002/mgg3.1573

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