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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Detaylı Bibliyografya
Yayımlandı:J Clin Lab Anal
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2020
Konular:
Research Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7843273/
https://ncbi.nlm.nih.gov/pubmed/32909271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23567
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