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Article

Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.

PloS one - 1 Jan 2014

Chen Mingfei, Li Yi, Liu Hong, Fu Xi'an, Yu Yiongxiang, Yu Gongqi, Wang Chuan, Bao Fangfang, Liany Herty, Wang Zhenzhen, Shi Zhongxiang, Zhang Dizhan, Zhou Guizhi, Liu Jianjun, Zhang Furen

Abstract excerpt

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently identified and confirmed to be additional pathogenic genes of DDD. To identify other DDD causative genes, we performed...

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Source

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Identifiers

PMID: 25157627
DOI: 10.1371/journal.pone.0104496
PMCID: PMC4144801

Genes

POFUT1
KRT5
POGLUT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.PMID 25157627Read ↗

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