دورية أكاديمية
Dominant pretibial dystrophic epidermolysis bullosa in an Italian family
| العنوان: | Dominant pretibial dystrophic epidermolysis bullosa in an Italian family |
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| المؤلفون: | Vaccaro M., Guarneri C., Guarneri F., Lentini M., Cannavo S. P. |
| المساهمون: | Vaccaro, M., Guarneri, C., Guarneri, F., Lentini, M., Cannavo, S. P. |
| بيانات النشر: | Blackwell Publishing Inc. |
| سنة النشر: | 2020 |
| المجموعة: | Università degli Studi di Messina: IRIS |
| مصطلحات موضوعية: | base mutation, COL7A1, dystrophic epidermolysis bullosa, Blister, Child, Preschool, Collagen Type VII, Female, Human, Italy, Mutation, Nail, Pedigree, Epidermolysis Bullosa Dystrophica |
| الوصف: | We describe a case of pretibial dystrophic epidermolysis bullosa in a 5-year-old girl, her mother, and maternal great aunt. All subjects had trauma-induced blisters and erosions, with scarring, on the knees and lower legs, and nail dystrophy of variable severity. Genetic analysis in all three patients showed a 6849del18 mutation in the COL7A1 gene, causing the production of shortened collagen VII polypeptides and resulting in a mild phenotype, with localized acral blisters and nail involvement. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/32840914; info:eu-repo/semantics/altIdentifier/wos/WOS:000562201400001; volume:37; issue:6; firstpage:1207; lastpage:1209; numberofpages:3; journal:PEDIATRIC DERMATOLOGY; https://hdl.handle.net/11570/3258786Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089784724 |
| DOI: | 10.1111/pde.14331 |
| الإتاحة: | https://doi.org/10.1111/pde.14331Test https://hdl.handle.net/11570/3258786Test |
| رقم الانضمام: | edsbas.F9F10BB7 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/pde.14331 |
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