An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103672
Abstract: Hypermobile Ehlers Danlos Syndrome (hEDS) is a multifaceted disorder that is difficult to diagnose and manage primarily due to the unknown causes. Research on hEDS continues to evolve but tangible progress will be realized when… read more here.
Keywords: connective tissue; danlos syndrome; ehlers danlos; hypermobile ehlers ... See more keywords
Intensive physical training in children with heritable connective tissue disorders is feasible and safe: a pilot study
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DOI: 10.1080/09638288.2025.2467772
Abstract: Abstract Purpose This pilot study assessed the feasibility, safety, and acceptability of a physical training program combined with parental meetings for children with heritable connective tissue disorders (HCTD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS),… read more here.
Keywords: connective tissue; tissue disorders; training; heritable connective ... See more keywords
Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort
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DOI: 10.1186/s40246-025-00749-2
Abstract: This study aimed to elucidate the reliability of clinical impressions based on ocular manifestations in patients suspected of heritable connective tissue disorders (HCTDs) compared to the final genetic diagnosis. Furthermore, it sought to determine the… read more here.
Keywords: connective tissue; reliability clinical; tissue disorders; heritable connective ... See more keywords