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Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformations, including cleft palate, hypoplasia of the facial bones, downward slanting of the palpebral fissures and malformation of the external and middle ear. Worldwide, 90% of cases of TCS are caused...

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Опубликовано в: :Exp Ther Med
Главные авторы: Yan, Zhiqiang, Lu, Yu, Wang, Yanfei, Zhang, Xiuju, Duan, Hong, Cheng, Jing, Yuan, Huijun, Han, Dongyi
Формат: Artigo
Язык:Inglês
Опубликовано: D.A. Spandidos 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122489/
https://ncbi.nlm.nih.gov/pubmed/30186496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2018.6446
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