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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Syndromol
Egile Nagusiak: Venti, Valeria, Scalia, Bruna, Sauna, Alessandra, Nasca, Maria Rita, Smilari, Pierluigi, Praticò, Andrea D., Fiumara, Agata, Pappalardo, Xena G., Pavone, Piero
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2020
Gaiak:
Novel Insights from Clinical Practice
Sarrera elektronikoa: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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