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Article

Somatic GNAQ mutation in different structures of port-wine macrocheilia.

The British journal of dermatology - 1 Nov 2018

Ma G, Yu Z, Liu F, Wang L, Yu W, Zhu J, Gu H, Liu Y, Cai R, Lin X

Abstract excerpt

BACKGROUND: Port-wine macrocheilia (PWM) involves a congenital, progressive capillary malformation that results in soft-tissue hypertrophy in the lips. Its aetiology has not yet been fully elucidated. OBJECTIVES: To investigate frequencies of GNAQ mutation in different tissues from patients with PWM, including skin, mucosa, gland and muscle, using samples obtained during cheiloplasty. METHODS: Targeted...

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Source

Identifiers

PMID: 29878304
DOI: 10.1111/bjd.16830

Genes

GNAQ

Variants

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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