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Article

Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.

American journal of medical genetics. Part A - 1 Aug 2009

Castori Marco, Barboni Luana, Duncan Philippa J, Paradisi Mauro, Laino Luigi, De Bernardo Carmelilia, Robinson David O, Grammatico Paola

Abstract excerpt

Darier disease (DD) is an autosomal dominant genodermatosis caused by mutations in ATP2A2 and characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Rare patients are described with variable bone involvement, but this association has never b...

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Source

Identifiers

PMID: 19610080
DOI: 10.1002/ajmg.a.32960

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19610080-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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