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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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Bibliografische gegevens
Gepubliceerd in:Exp Ther Med
Hoofdauteurs: Yan, Zhiqiang, Lu, Yu, Wang, Yanfei, Zhang, Xiuju, Duan, Hong, Cheng, Jing, Yuan, Huijun, Han, Dongyi
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: D.A. Spandidos 2018
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Online toegang: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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