Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

Classical-like Ehlers–Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in TNXB. Thus far, 50 patients from 43 families with biallelic TNXB variants have been identified. Accurate detection of TNXB variants is chall...

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Bibliographic Details
Main Authors: Tomomi Yamaguchi, Kazuo Yamada, So Nagai, Toshiya Nishikubo, Norimichi Koitabashi, Masako Minami-Hori, Masaaki Matsushima, Yuka Shibata, Hiroki Ishiguro, Hiromi Sanai, Tomomi Fujikawa, Yuri Takiguchi, Ken-Ichi Matsumoto, Tomoki Kosho
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Genetics
Subjects:
Ehlers-Danlos syndrome
classical-like
TNXB
tenascin-X
connective tissue disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1234804/full

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