Novel <i>ATP2A2</i> Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease

Darier disease (DD) is an autosomal dominant disorder due to pathogenic variants of the <i>ATP2A2</i> gene that causes an isolated skin manifestation based on keratinocyte disconnection and apoptosis. Systemic manifestations of DD have not been demonstrated so far, although a high incidence of neuro...

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Autori principali:	Andrea Frustaci, Alessandro De Luca, Romina Verardo, Valentina Guida, Maria Alfarano, Camilla Calvieri, Luigi Sansone, Matteo Antonio Russo, Cristina Chimenti
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	MDPI AG 2024-05-01
Serie:	Biomedicines
Soggetti:	Darier disease gene variant SERCA2 cardiomyocyte disconnection molecular and cellular rehabilitation
Accesso online:	https://www.mdpi.com/2227-9059/12/5/1060
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