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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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Detalles Bibliográficos
Autores principales: Wu, Nan, Tang, Lili, Li, Xiuxiu, Dai, Yuwei, Zheng, Xiaodong, Gao, Min, Wang, Peiguang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7417341/
https://www.ncbi.nlm.nih.gov/pubmed/32849825
http://dx.doi.org/10.3389/fgene.2020.00841