Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

April 2023 in “ Frontiers in Genetics ”

Chloe Angwin, Neeti Ghali, Fleur S van Dijk

AEBP1 classical-like Ehlers-Danlos syndrome clEDS type 2 joint hypermobility easy bruising hair loss androgenetic alopecia WNT signalling hair follicle pathogenic AEBP1 variants clEDS androgenic alopecia

Studysummary This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.

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