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Article

Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.

The Journal of investigative dermatology - 1 Dec 2021

Wu Tiffany T, Eldirany Sherif A, Bunick Christopher G, Teng Joyce M C

Abstract excerpt

Pachyonychia congenita (PC) is a genetic disorder of keratin that presents with nail dystrophy, painful palmoplantar keratoderma, and other clinical manifestations. We investigated the genotype‒structurotype‒phenotype correlations seen with mutations in keratin genes (keratin [K]6A, K6B, K6C, K16, K17) and utilized protein structure modeling of high-frequency mutations to examine the functional importance of...

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Identifiers

PMID: 34116063
DOI: 10.1016/j.jid.2021.03.035
PMCID: PMC8922998

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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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