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Article

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

Genes - 25 Nov 2019

Micale Lucia, Guarnieri Vito, Augello Bartolomeo, Palumbo Orazio, Agolini Emanuele, Sofia Valentina Maria, Mazza Tommaso, Novelli Antonio, Carella Massimo, Castori Marco

Abstract excerpt

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-Danlos syndrome without atrophic scarring. TNXB-clEDS is likely underdiagnosed due to the complex structure of the...

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Identifiers

PMID: 31775249
DOI: 10.3390/genes10120967
PMCID: PMC6947605

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