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...

書誌詳細
主要な著者:	Angwin, C, Brady, A, Colombi, M, Ferguson, D, Pollitt, R, Pope, F, Ritelli, M, Symoens, S, Ghali, N, Van Dijk, F
フォーマット:	Journal article
言語:	English
出版事項:	MDPI 2019

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