115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
October 2021 in “Acta Scientific Medical Sciences” A woman was diagnosed with a rare adrenal gland cancer that did not show usual hormone-related symptoms.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
March 2025 in “Laboratory Investigation” MESTSV is a rare tumor that is mostly benign but needs long-term monitoring due to potential recurrence.
July 2024 in “Indian Dermatology Online Journal” A benign tumor on the cheek, called trichoadenoma, should be surgically removed for cosmetic reasons.