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    Glossary Marfan syndrome

    genetic disorder affecting connective tissue, often causing long limbs

    Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides support, strength, and elasticity to other tissues and organs. It is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1. People with Marfan syndrome often have long limbs, fingers, and toes, and may experience cardiovascular issues, such as aortic enlargement, as well as eye problems like lens dislocation.

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    Research 30 of 226

    1. Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report Journal of Clinical Case Studies · 2025
    2. Congenital Combined Melanocytic Nevus of the Scalp With Associated Alopecia Areata The American Journal of Dermatopathology · 2012 · 3 citations
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    5. <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients Clinical genetics · 2010 · 43 citations
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    9. Women with clinically significant hirsutism always have detectable endocrinological abnormalities Journal of The European Academy of Dermatology and Venereology · 1997 · 1 citations
    10. Complications of cataract surgery in Wistar rats undergoing treatment with tamsulosin Experimental and Therapeutic Medicine · 2018 · 3 citations
    11. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    12. PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in <i>ACTB</i> 2023
    13. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    14. A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia Archives of Dermatological Research · 2015 · 2 citations
    15. Polycystic Ovarian Syndrome and Obstructive Sleep Apnea Current Respiratory Medicine Reviews · 2007
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    17. Role of Polycystic Ovary Syndrome in Increasing Susceptibility to COVID-19: A Biochemical and Psychological Approach International Journal of Science and Research (IJSR) · 2022
    18. AKT2 Gene Polymorphisms, sRANKL/OPG and Hormone Measurements in Polycystic Ovarian Syndrome (PCOS) Women Clinical & medical biochemistry · 2017
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    20. Polarized microscopy in genetic hair disorders: case series 2025
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    27. Testosterone: The Male Sex Hormone IntechOpen eBooks · 2023
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