SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans

Por Guan, Jing, Wang, Dayong, Cao, Wenjian, Zhao, Yali, Du, Renqian, Yuan, Hu, Liu, Qiong, Lan, Lan, Zong, Liang, Yang, Ju, Yin, Zifang, Han, Bing, Zhang, Feng, Wang, Qiuju
Publicado no J Hum Genet (2016)

Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review

Por Liu, Zhenlei, Liu, Jiaqi, Liu, Gang, Cao, Wenjian, Liu, Sen, Chen, Yixin, Zuo, Yuzhi, Chen, Weisheng, Chen, Jun, Zhang, Yu, Huang, Shishu, Qiu, Guixing, Giampietro, Philip F., Zhang, Feng, Wu, Zhihong, Wu, Nan
Publicado no J Int Med Res (2018)

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

Por Dharmadhikari, Avinash V, Gambin, Tomasz, Szafranski, Przemyslaw, Cao, Wenjian, Probst, Frank J, Jin, Weihong, Fang, Ping, Gogolewski, Krzysztof, Gambin, Anna, George-Abraham, Jaya K, Golla, Sailaja, Boidein, Francoise, Duban-Bedu, Benedicte, Delobel, Bruno, Andrieux, Joris, Becker, Kerstin, Holinski-Feder, Elke, Cheung, Sau Wai, Stankiewicz, Pawel
Publicado no BMC Med Genet (2014)