Novel mutations in HSF4 cause congenital cataracts in Chinese families

• Principais autores: Zongfu Cao (Autor), Yihua Zhu (Autor), Lijuan Liu (Autor), Shuangqing Wu (Autor), Bing Liu (Autor), Jianfu Zhuang (Autor), Yi Tong (Autor), Xiaole Chen (Autor), Yongqing Xie (Autor), Kaimei Nie (Autor), Cailing Lu (Autor), Xu Ma (Autor), Juhua Yang (Autor)
• Formato: Livro
• Publicado em: BMC, 2018-08-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Congenital cataract, a kind of cataract presenting at birth or during early childhood, is a leading cause of childhood blindness. To date, more than 30 genes on different chromosomes are known to cause this disorder. This study aimed to identify the HSF4 mutations in a cohort fro...