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Article

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.

Journal of clinical laboratory analysis - 1 Jun 2021

Liu Jia-Wei, Habulieti Xiaerbati, Wang Rong-Rong, Ma Dong-Lai, Zhang Xue

Abstract excerpt

BACKGROUND: Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hyper- and hypo-pigmented macules on the face, trunk, and extremities. The condition causes severe cosmetic problem which can lead to significant psychological distress to the patients and bear a negative impact on society. DUH is a condition with genetic heterogeneity. The SASH1 gene was recently identified as...

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Identifiers

PMID: 34028087
DOI: 10.1002/jcla.23803
PMCID: PMC8183922

Genes

SASH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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