Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma

Affiliations

• ¹ Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital des Enfants Pellegrin, European Network Skin Diseases, Centre Hospitalier Universitaire du Bordeaux, Bordeaux, France.
• ² Department of Pathology, CHU de Bordeaux, Pessac, France.
• ³ Department of Medical Genetics, CHU de Bordeaux, Bordeaux, France.
• ⁴ Department of Pathology and Reference Center for Genodermatoses (MAGEC Center), Necker-Enfants Malades Hospital, Paris Centre University, Paris, France.
• ⁵ Department of Genetics and Reference Center for Genodermatoses (MAGEC Center), Necker-Enfants Malades Hospital, Paris Centre University, Paris, France.
• ⁶ Department of Dermatology and Reference Center for Genodermatoses (MAGEC Center), Necker-Enfants Malades Hospital, Paris Centre University, Paris, France.