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De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome

✍ Scribed by Javiera A. Catalán; Fernando A. Rodríguez; María J. Yubero; Francis Palisson; María J. Gana; Susanne M. Krämer; Gabriela M. Repetto

Book ID
117948201
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
308 KB
Volume
51
Category
Article
ISSN
0011-9059

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The international dystrophic epidermolys
The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations
✍ Peter C. van den Akker; Marcel F. Jonkman; Trebor Rengaw; Leena Bruckner-Tuderma 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 353 KB

Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype