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

Autor: Letertre O; 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., Jullie ML; Department of Pathology, CHU de Bordeaux, Pessac, France., Reboul MP; Department of Medical Genetics, CHU de Bordeaux, Bordeaux, France., Leclerc-Mercier S; Department of Pathology and Reference Center for Genodermatoses (MAGEC Center), Necker-Enfants Malades Hospital, Paris Centre University, Paris, France., Charbit F; Department of Genetics and Reference Center for Genodermatoses (MAGEC Center), Necker-Enfants Malades Hospital, Paris Centre University, Paris, France., Boralevi F; 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., Labrèze C; 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., Hadj-Rabia S; Department of Dermatology and Reference Center for Genodermatoses (MAGEC Center), Necker-Enfants Malades Hospital, Paris Centre University, Paris, France., Morice-Picard F; 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.
Jazyk: angličtina
Zdroj: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2023 Jun; Vol. 37 (6), pp. e801-e803. Date of Electronic Publication: 2023 Feb 17.
DOI: 10.1111/jdv.18935
Databáze: MEDLINE