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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mol Syndromol
Asıl Yazarlar: Venti, Valeria, Scalia, Bruna, Sauna, Alessandra, Nasca, Maria Rita, Smilari, Pierluigi, Praticò, Andrea D., Fiumara, Agata, Pappalardo, Xena G., Pavone, Piero
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2020
Konular:
Novel Insights from Clinical Practice
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller