The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis

• Main Authors: Cristina Has (Author), Julia Küsel (Author), Antonia Reimer (Author), Julia Hoffmann (Author), Franziska Schauer (Author), Andreas Zimmer (Author), Judith Fischer (Author)
• Format: Book
• Published: Medical Journals Sweden, 2018-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The precise classification of epidermolysis bullosa (EB) into 4 main types and more than 30 subtypes is based on the level of skin cleavage, as well as clinical and molecular features, and is crucial for early prognostication, case management, genetic counselling and prenatal or pre-implantation dia...