Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1

Epidermolysis bullosa (EB) is a rare and genetically heterogeneous disorder characterized by skin fragility and blister formation occurring spontaneously or after minor trauma. EB is accompanied by congenital absence of skin (EB with CAS) in some patients. Pathogenic variants of COL7A1 are responsib...

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Detalles Bibliográficos
Autores principales: Pongmee, Pharuhad, Wittayakornrerk, Sanchawan, Lekwuttikarn, Ramrada, Pakdeeto, Sasikarn, Watcharakuldilok, Piangor, Prempunpong, Chatchay, Tim-Aroon, Thipwimol, Puttanapitak, Chawintee, Wattanasoontornsakul, Piyawan, Junhasavasdikul, Thitiporn, Wongkittichote, Parith, Noojarern, Saisuda, Wattanasirichaigoon, Duangrurdee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9010945/
https://www.ncbi.nlm.nih.gov/pubmed/35432467
http://dx.doi.org/10.3389/fgene.2022.847150

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