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

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

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...

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Bibliographic Details
Main Authors: Lu Cao, Ruixue Zhang, Liang Yong, Shirui Chen, Hui Zhang, Weiwei Chen, Qiongqiong Xu, Huiyao Ge, Yiwen Mao, Qi Zhen, Yafen Yu, Xia Hu, Liangdan Sun
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Medical Genomics
Subjects:
ABCB6 gene
Dyschromatosis universalis hereditaria
Mutation
SASH1 gene
Online Access:https://doi.org/10.1186/s12920-021-01014-w

Internet

https://doi.org/10.1186/s12920-021-01014-w

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