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Article

Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report.

Medicine - 4 Aug 2023

Yang Yue, Jiang Nan, Mai Jing Qun, Yang Shuo, Xiao Yuanyuan, Liu Shanling

Abstract excerpt

RATIONALE: Dyschromatosis universalis hereditaria (DUH) is an uncommon form of pigmented genodermatosis that is typically inherited autosomally and dominantly. In the previous study, the pathogenic genes of DUH have been identified in ATP-binding cassette subfamily B, member 6 and SASH1. However, the mutational screening of the causative gene remains incomplete and still lacks sufficient proof in the etiology....

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Identifiers

PMID: 37543808
DOI: 10.1097/MD.0000000000034448
PMCID: PMC10402963

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