Article
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Acta dermato-venereologica - 16 Apr 2018
Has Cristina, Küsel Julia, Reimer Antonia, Hoffmann Julia, Schauer Franziska, Zimmer Andreas, Fischer Judith
Abstract excerpt
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 diagnosis. We report here the molecular pathology of 40 consecutive cases of suspected EB, which were investigated by...
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