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Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa
Epidermolysis bullosa (EB) encompasses a group of inheritable skin disorders characterized by various degrees of epithelial fragility that lead to cutaneous and mucosal blistering following negligible mechanical traumas. These disorders are clinically and genetically heterogeneous, ranging from mild...
保存先:
| 出版年: | Mol Syndromol |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6995948/ https://ncbi.nlm.nih.gov/pubmed/32021608 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000504210 |
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