6 citations
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February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
January 2001 in “Cambridge University Press eBooks” Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
1 citations
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October 2022 in “Veterinary pathology” Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
July 2023 in “JCEM Case Reports” A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
6 citations
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April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
12 citations
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November 2021 in “Journal of Clinical Medicine” Kidney transplant patients who had COVID-19 experienced a significant drop in their quality of life due to long-lasting symptoms.