Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis

Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by mottled hyperpigmented and hypopigmented macules. SASH1 and ABCB6 have been identified as the causative genes for this disorder. We performed whole exome sequencing on a Chinese family with DUH and genotype-phenot...

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Bibliographic Details
Main Authors: Nan Wu, Lili Tang, Xiuxiu Li, Yuwei Dai, Xiaodong Zheng, Min Gao, Peiguang Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Genetics
Subjects:
dyschromatosis universalis hereditaria
SASH1 gene
ABCB6 gene
mutation
phenotype
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00841/full

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