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December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
January 2026 in “Annals of Clinical Endocrinology and Metabolism” Restoring NAD⁺ may help with aging and chronic diseases, but more research is needed.
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
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January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
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April 2021 in “Frontiers in Immunology” Different types of RNAs are found in varying amounts in patients with Polycystic Ovary Syndrome, suggesting they could be important in the disease's development and potentially used as disease markers.
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August 2023 in “Journal of Dentomaxillofacial Science” Freeze-dried platelet-rich plasma boosts bone growth in gum treatment.
A new easy-to-use biosensor was made to detect androgen receptor mRNA, which could help diagnose related conditions quickly.
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
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