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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Dettagli Bibliografici
Pubblicato in:Genes (Basel)
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2021
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8151857/
https://ncbi.nlm.nih.gov/pubmed/34064633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050716
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