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
    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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    Research cited in this study 4

    1. WNT10A, Dermatology and Dentistry British Journal of Dermatology · 2021
    2. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019
    3. Androgenetic Alopecia: A Review Endocrine · 2017
    4. Hair Follicle Stem Cell Differentiation Is Inhibited Through Cross-Talk Between Wnt/β-Catenin and Androgen Signaling in Dermal Papilla Cells From Patients With Androgenetic Alopecia British Journal of Dermatology · 2012