Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

Two probands are reported with pathogenic and likely pathogenic COL5A1 variants (frameshift and splice site) in whom no collagen flowers have been identified with transmission electron microscopy (TEM). One proband fulfils the clinical criteria for classical Ehlers-Danlos syndrome (cEDS) while the o...

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Detalles Bibliográficos
Autores principales: Angwin, Chloe, Brady, Angela F., Colombi, Marina, Ferguson, David J. P., Pollitt, Rebecca, Pope, F. Michael, Ritelli, Marco, Symoens, Sofie, Ghali, Neeti, van Dijk, Fleur S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826538/
https://www.ncbi.nlm.nih.gov/pubmed/31569816
http://dx.doi.org/10.3390/genes10100762

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826538/
https://www.ncbi.nlm.nih.gov/pubmed/31569816
http://dx.doi.org/10.3390/genes10100762

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