Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria

• Main Authors: Lu Cao (Author), Ruixue Zhang (Author), Liang Yong (Author), Shirui Chen (Author), Hui Zhang (Author), Weiwei Chen (Author), Qiongqiong Xu (Author), Huiyao Ge (Author), Yiwen Mao (Author), Qi Zhen (Author), Yafen Yu (Author), Xia Hu (Author), Liangdan Sun (Author)
• 格式: 圖書
• 出版: BMC, 2021-06-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causa...