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...

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Dades bibliogràfiques
Publicat a:Mol Syndromol
Autors principals: Venti, Valeria, Scalia, Bruna, Sauna, Alessandra, Nasca, Maria Rita, Smilari, Pierluigi, Praticò, Andrea D., Fiumara, Agata, Pappalardo, Xena G., Pavone, Piero
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2020
Matèries:
Novel Insights from Clinical Practice
Accés en línia: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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