August 2026 in “European Journal of Endocrinology” This case report highlights that Postural Orthostatic Tachycardia Syndrome (POTS) is often underdiagnosed in young females and can significantly impair quality of life, while Non-Classical Congenital Adrenal Hyperplasia should be considered in differential diagnoses for hyperandrogenism among lean patients.
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February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
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July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
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April 2023 in “Frontiers in Genetics” 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.
This review reports that empirical evidence suggests an overlap between Long Covid, chronic fatigue syndrome, and fibromyalgia, highlighting the need for standardized definitions and rigorous methodologies in related research.