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Article

Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

PloS one - 1 Jan 2013

Cui Ying-Xia, Xia Xin-Yi, Zhou Yang, Gao Lin, Shang Xue-Jun, Ni Tong, Wang Wei-Ping, Fan Xiao-Buo, Yin Hong-Lin, Jiang Shao-Jun, Yao Bing, Hu Yu-An, Wang Gang, Li Xiao-Jun

Abstract excerpt

OBJECTIVE: Dyschromatosis universalis hereditaria (DUH) is a rare heterogeneous pigmentary genodermatosis, which was first described in 1933. The genetic cause has recently been discovered by the discovery of mutations in ABCB6. Here we investigated a Chinese family with typical features of autosomal dominant DUH and 3 unrelated patients with sporadic DUH. METHODS: Skin tissues were obtained from the proband, of...

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Identifiers

PMID: 24224009
DOI: 10.1371/journal.pone.0079808
PMCID: PMC3818219

Genes

ABCB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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