3 citations
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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.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
2 citations
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July 2022 in “Cureus” A rare skin disorder affecting the face was found in a 28-year-old Saudi man.
October 2024 in “Journal of the Endocrine Society” A woman experienced fluctuating thyroid conditions and eye disease, but her symptoms improved with treatment.
1 citations
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April 2004 in “Cancer” Imatinib mesylate can cause skin lightening, especially in Chinese patients, due to its effect on pigment production.
March 2018 in “New scientist” 9 citations
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January 2016 in “Case Reports in Medicine” Iron therapy resolved uncooked rice cravings and symptoms in women with iron deficiency.
5 citations
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March 2013 in “International journal of surgical pathology” Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
November 2021 in “CRC Press eBooks” Hair color is determined by melanin and can be affected by genetic conditions like albinism.