Primary Care Medicine - United States News Beep

Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature | Journal of Medical Case Reports

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Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature | Journal of Medical Case Reports

August 29, 2025

BORS is a rare autosomal dominant genetic disorder with significant heterogeneity in clinical practice, and the penetrance rate…

Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report | Journal of Medical Case Reports

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Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report | Journal of Medical Case Reports

August 11, 2025

The pathophysiology of BBS is thought to be caused by or involve at least 28 distinct genes. The…

Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series | Journal of Medical Case Reports

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Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series | Journal of Medical Case Reports

July 12, 2025

Case 1 Case 1 involved a 6-year-old boy who was born full-term via normal vaginal delivery with a…