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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
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December 2013 in “International Journal of Dermatology”
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
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July 2021 in “International journal of laboratory hematology” An 84-year-old man developed severe anemia after his first COVID-19 vaccine shot, improved with treatment, and was advised against a second dose.
January 2017 in “Journal of clinical & experimental dermatology research” The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.
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January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
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February 2015 in “Cellular immunology” Deleting Snai2 and Snai3 causes fatal autoimmunity.
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January 2016 in “INTAS POLIVET” High selenium levels in some areas cause health issues in cows and buffaloes, but blood tests remain normal.
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
July 2016 in “Reumatología Clínica (English Edition)” The patient with Ankylosing Spondylitis had shoulder joint damage and bone changes.
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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November 1987 in “The Journal of Pediatrics” Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
PNH can occur in patients with SLE, so doctors should be aware of this.
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April 2017 in “Experimental and Therapeutic Medicine” Patients with severe active alopecia areata have lower CD200 expression and an imbalance in their immune system.
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
January 1980 in “Journal of the Japan Veterinary Medical Association” Iodine deficiency in sows likely caused hair loss in newborn piglets.
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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May 2010 in “Journal of The American Academy of Dermatology” A 38-year-old African American woman has a rare condition that prevents her from growing long hair.
September 2025 in “Archives of Medicine and Health Sciences” Many first-trimester pregnant women in Mysore have anemia and iron deficiency, needing better care and interventions.
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
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November 2003 in “Journal of the American Academy of Dermatology” Iron therapy cured the boy's hair color issue.