Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

TNXB-related classical-like Ehlers-Danlos syndrome (TNXB-clEDS) is an ultrarare type of Ehlers-Danlos syndrome due to biallelic null variants in TNXB, encoding tenascin-X. Less than 30 individuals have been reported to date, mostly of Dutch origin and showing a phenotype resembling classical Ehlers-...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Micale, Lucia, Guarnieri, Vito, Augello, Bartolomeo, Palumbo, Orazio, Agolini, Emanuele, Sofia, Valentina Maria, Mazza, Tommaso, Novelli, Antonio, Carella, Massimo, Castori, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6947605/
https://ncbi.nlm.nih.gov/pubmed/31775249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10120967
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