Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

The Ehlers-Danlos syndromes (EDS) constitute a clinically and genetically heterogeneous group of connective tissue disorders. Tenascin X (TNX) deficiency is a rare type of EDS, defined as classical-like EDS (clEDS), since it phenotypically resembles the classical form of EDS, though lacking atrophic...

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Detalles Bibliográficos
Autores principales: Rymen, Daisy, Ritelli, Marco, Zoppi, Nicoletta, Cinquina, Valeria, Giunta, Cecilia, Rohrbach, Marianne, Colombi, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895888/
https://www.ncbi.nlm.nih.gov/pubmed/31731524
http://dx.doi.org/10.3390/genes10110843

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895888/
https://www.ncbi.nlm.nih.gov/pubmed/31731524
http://dx.doi.org/10.3390/genes10110843

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