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Article

Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report.

The Journal of dermatology - 1 Jan 2020

Cong Tianxin, Liu Lian, Zhang Haoyi, Wang Lian, Jiang Xian

Abstract excerpt

Port-wine stains (PWS) are capillary malformations associated with mutation in the GNAQ (NM_000441.1) gene. Large vestibular aqueduct syndrome (LVAS), caused by mutation in the SLC26A4 (NM_002072) gene, is an inner ear malformation that can lead to hearing loss. To our knowledge, LVAS in PWS patients has never been reported. Here, we describe a case of a 9-year-old female patient diagnosed with PWS on the face...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31692010
DOI: 10.1111/1346-8138.15130

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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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