Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients

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...

Podrobná bibliografie
Hlavní autoři:	Angwin, C, Brady, A, Colombi, M, Ferguson, D, Pollitt, R, Pope, F, Ritelli, M, Symoens, S, Ghali, N, Van Dijk, F
Médium:	Journal article
Jazyk:	English
Vydáno:	MDPI 2019

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