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    Did you mean Marfan syndrome?
    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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    1. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome Fertility and Sterility · 2004 · 4809 citations
    2. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS) Human Reproduction · 2003 · 4025 citations
    3. The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report Fertility and Sterility · 2008 · 1540 citations
    4. Polycystic ovary syndrome The Lancet · 2007 · 989 citations
    5. Polycystic ovary syndrome: a complex condition with psychological, reproductive and metabolic manifestations that impacts on health across the lifespan BMC Medicine · 2010 · 926 citations
    6. Polycystic Ovary Syndrome and Cardiovascular Disease: A Premature Association? Endocrine Reviews · 2003 · 418 citations
    7. Prevalence of polycystic ovary syndrome in women in China: a large community-based study Human Reproduction · 2013 · 271 citations
    8. A Syndrome of Acute Zinc Deficiency During Total Parenteral Alimentation in Man Annals of Surgery · 1976 · 246 citations
    9. Metformin: an old medication of new fashion: evolving new molecular mechanisms and clinical implications in polycystic ovary syndrome European journal of endocrinology · 2009 · 200 citations
    10. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    11. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    12. Increased androgen bioavailability is associated with non-alcoholic fatty liver disease in women with polycystic ovary syndrome Human Reproduction · 2009 · 119 citations
    13. Short-term combined treatment with liraglutide and metformin leads to significant weight loss in obese women with polycystic ovary syndrome and previous poor response to metformin European journal of endocrinology · 2013 · 116 citations
    14. Phenotype and metabolic profile of South Asian women with polycystic ovary syndrome (PCOS): results of a large database from a specialist Endocrine Clinic Human Reproduction · 2010 · 111 citations
    15. Acne-associated syndromes: models for better understanding of acne pathogenesis Journal of The European Academy of Dermatology and Venereology · 2010 · 99 citations
    16. The PRIDE (Papulopustules and/or paronychia, Regulatory abnormalities of hair growth, Itching, and Dryness due to Epidermal growth factor receptor inhibitors) syndrome British Journal of Dermatology · 2006 · 90 citations
    17. Polycystic Ovary Syndrome Nursing Clinics of North America · 2018 · 87 citations
    18. KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype PLoS Genetics · 2017 · 87 citations
    19. <i>Polycystic Ovary Syndrome in Adolescence</i> Annals of the New York Academy of Sciences · 2008 · 85 citations
    20. Infertility in Polycystic Ovary Syndrome: Focus on Low-Dose Gonadotropin Treatment Endocrine journal · 2006 · 74 citations
    21. Cutaneous Syndromes Produced as Side Effects of Triparanol Therapy Archives of Dermatology · 1963 · 74 citations
    22. Low sex hormone-binding globulin is associated with low high-density lipoprotein cholesterol and metabolic syndrome in women with PCOS Human Reproduction · 2006 · 71 citations
    23. The SAHA Syndrome Hormone Research in Paediatrics · 2000 · 70 citations
    24. Polycystic ovary syndrome and impact on health Middle East Fertility Society Journal · 2010 · 69 citations
    25. Association of androgenetic alopecia with metabolic syndrome in men: a community-based survey British Journal of Dermatology · 2010 · 69 citations
    26. Relationship of the metabolic syndrome and obesity to polycystic ovary syndrome: A controlled, population-based study American Journal of Obstetrics and Gynecology · 2001 · 61 citations
    27. Ovarian Hypertension: Polycystic Ovary Syndrome Endocrinology and Metabolism Clinics of North America · 2011 · 60 citations
    28. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice 2008 · 60 citations
    29. Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses Journal of Allergy and Clinical Immunology · 2021 · 59 citations
    30. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014 · 56 citations