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Article

Somatic Mutations in NEK9 Cause Nevus Comedonicus.

American journal of human genetics - 5 May 2016

Levinsohn Jonathan L, Sugarman Jeffrey L, McNiff Jennifer M, Antaya Richard J, Choate Keith A

Abstract excerpt

Acne vulgaris (AV) affects most adolescents, and of those affected, moderate to severe disease occurs in 20%. Comedones, follicular plugs consisting of desquamated keratinocytes and sebum, are central to its pathogenesis. Despite high heritability in first-degree relatives, AV genetic determinants remain incompletely understood. We therefore employed whole-exome sequencing (WES) in nevus comedonicus (NC), a rare...

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Source

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Identifiers

PMID: 27153399
DOI: 10.1016/j.ajhg.2016.03.019
PMCID: PMC4863661

Genes

NEK9
RCC1

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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