A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogeneous skin fragility disorder frequently caused by mutations in genes encoding the epithelial laminin isoform, laminin-332. JEB patients also present mucosal involvement, including painful corneal lesions. Recurrent corne...

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Detalles Bibliográficos
Autores principales: Castiglia, Daniele, Fortugno, Paola, Condorelli, Angelo Giuseppe, Barresi, Sabina, De Luca, Naomi, Pizzi, Simone, Neri, Iria, Graziano, Claudio, Trojan, Diletta, Ponzin, Diego, Rossi, Sabrina, Zambruno, Giovanna, Tartaglia, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151857/
https://www.ncbi.nlm.nih.gov/pubmed/34064633
http://dx.doi.org/10.3390/genes12050716

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