Showing 61 - 80 results of 551 for search '"Ehlers–Danlos syndromes"', query time: 0.15s Refine Results
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    Cleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report by Rengin Ibrahim, MSc, Omar Hamadah, PhD, Mahmoud Abdul-Hak, PhD, Aladdin Alshawa, MSc, Mohamad Alhasan Alouda, MSc

    Published 2023-01-01
    “…This case report describes a 31-year-old male with CCD with several unusual symptoms like generalized joint hypermobility, skin laxity, and smooth skin, which leads to set a diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS). To our knowledge, this is the first case report in the literature that describes a patient with these 2 distinct syndromes CCD and hEDS.…”
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    Cardiovascular manifestations of type IV Ehlers-Danlos syndrome – A case report by Tiago Sepúlveda Santos, Rita Marçal, Oana Moldovan, Leonor Carvalho, José Luís Ducla-Soares

    Published 2022-05-01
    “…Type IV Ehlers-Danlos syndrome (vascular) is a rare connective tissue disease caused by COL3A1 gene mutation on type III collagen. …”
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    Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency by Charlotte K. Lautrup, Keng W. Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx, Heng H. Sin, Irene K. Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, Noriko Miyake, Tomoki Kosho

    Published 2020-05-01
    “…Abstract Background Musculocontractural Ehlers–Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss‐of‐function variants in CHST14 (mcEDS‐CHST14) or DSE (mcEDS‐DSE), both of which result in defective dermatan sulfate biosynthesis. …”
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    Penile fracture in a patient with Ehlers-Danlos syndrome: A case report by James L. Liu, Dorota J. Hawksworth, Arthur L. Burnett

    Published 2019-11-01
    “…The association of penile fracture with Ehlers-Danlos syndrome (EDS) has never been described. Our patient is a 41-year-old male with EDS who presented with a traumatic penile fracture, ten days following sexual intercourse. …”
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