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Article

Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1.

American journal of medical genetics. Part A - 1 Mar 2025

Blechingberg Jenny, Terkelsen Thorkild, Jensen Uffe Birk, Rønholt Kirsten, Sommerlund Mette, Vinter Hanne, Graversen Lise

Abstract excerpt

Hailey-Hailey disease (OMIM#169600) is an autosomal dominantly inherited genodermatosis characterized by erosions in the flexural areas of the body. Hailey-Hailey disease is caused by variants in ATP2C1, but for ~10% of the patients, no causative variant is found in the coding region of ATP2C1. We aimed to determine the genetic cause of Hailey-Hailey disease in a family without a variant in the coding areas of...

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Identifiers

PMID: 39523677
DOI: 10.1002/ajmg.a.63933

Genes

ATP2C1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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