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02.03.2019 | Review

Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing

verfasst von: Francesca Cortini, Chiara Villa, Barbara Marinelli, Romina Combi, Angela Cecilia Pesatori, Alessandra Bassotti

Erschienen in: Archives of Dermatological Research | Ausgabe 4/2019

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Abstract

Ehlers–Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) defined by joint laxity, skin alterations, and joint hypermobility. The latest EDS classification recognized 13 subtypes in which the clinical and genetic phenotypes are often overlapping, making the diagnosis rather difficult and strengthening the importance of the molecular diagnostic confirmation. New genetic techniques such as next-generation sequencing (NGS) gave the opportunity to identify the genetic bases of unresolved EDS types and support clinical counseling. To date, the molecular defects have been identified in 19 genes, mainly in those encoding collagen, its modifying enzymes or other constituents of the extracellular matrix (ECM). In this review we summarize the contribution of NGS technologies to the current knowledge of the genetic background in different EDS subtypes.

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Titel: Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing
verfasst von: Francesca Cortini
Chiara Villa
Barbara Marinelli
Romina Combi
Angela Cecilia Pesatori
Alessandra Bassotti
Publikationsdatum: 02.03.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Archives of Dermatological Research / Ausgabe 4/2019
Print ISSN: 0340-3696
Elektronische ISSN: 1432-069X
DOI: https://doi.org/10.1007/s00403-019-01894-0

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