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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Detalles Bibliográficos
Autores principales: Yamaguchi, Tomomi, Yamada, Kazuo, Nagai, So, Nishikubo, Toshiya, Koitabashi, Norimichi, Minami-Hori, Masako, Matsushima, Masaaki, Shibata, Yuka, Ishiguro, Hiroki, Sanai, Hiromi, Fujikawa, Tomomi, Takiguchi, Yuri, Matsumoto, Ken-Ichi, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10498456/
https://www.ncbi.nlm.nih.gov/pubmed/37712068
http://dx.doi.org/10.3389/fgene.2023.1234804

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