Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

BACKGROUND: Treacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse. Interventional surgery can improve hearing loss and facial deformity in TCS patients. METHOD: We rec...

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Detalles Bibliográficos
Autores principales: Zhang, Chuan, An, Lisha, Xue, Huiqin, Hao, Shengju, Yan, Yousheng, Zhang, Qinghua, Jin, Xiaohua, Li, Qian, Zhou, Bingbo, Feng, Xuan, Ma, Panpan, Wang, Xing, Chen, Xue, Chen, Cuixia, Cao, Zongfu, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7843273/
https://www.ncbi.nlm.nih.gov/pubmed/32909271
http://dx.doi.org/10.1002/jcla.23567

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