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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Veröffentlicht in:	Genes 2021-05, Vol.12 (5), p.716
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative splicing Amnion - chemistry Amniotic membrane Biopsy Cell Adhesion Cell Adhesion Molecules - genetics Cells, Cultured Child, Preschool Cornea Corneal Dystrophies, Hereditary - drug therapy Corneal Dystrophies, Hereditary - genetics Corneal Dystrophies, Hereditary - pathology Disease Epidermolysis bullosa Epidermolysis Bullosa, Junctional - drug therapy Epidermolysis Bullosa, Junctional - genetics Epidermolysis Bullosa, Junctional - pathology Epithelium, Corneal - pathology Extracellular matrix Eye Female Genotype & phenotype Humans Junctional epidermolysis bullosa Kalinin Keratinocytes - drug effects Keratinocytes - pathology Keratinocytes - physiology Laminin Lesions Mucosa Mutation Ophthalmic Solutions - chemistry Ophthalmic Solutions - pharmacology Ophthalmic Solutions - therapeutic use Phenotype Phenotypes Placenta Remission Skin Skin - pathology
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