The Position of Targeted Next-generation Sequencing in Epidermo-lysis Bullosa Diagnosis.

This study underscores the efficacy of the strategy of combining targeted NGS with IFM in resolving unusual EB phenotypes. It also suggests that, despite technological advances, careful clinical evaluation and deep phenotyping remains a crucial factor that dictates successful diagnosis of EB. PMID: 29242947 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29242947?dopt=Abstract

Source: Acta Dermato-Venereologica - December 15, 2017 Category: Dermatology Authors: Has C, Küsel J, Reimer A, Hoffmann J, Schauer F, Zimmer A, Fischer J Tags: Acta Derm Venereol Source Type: research