ArticleJournal of medical cases2026
A Rare Genetic Association of an
Article in Journal of medical cases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors.
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Abstract
Nephronophthisis is a rare genetic disorder affecting the kidneys and is one of the leading causes of end-stage kidney disease in children. The Bombay blood group is an extremely rare blood type that poses serious clinical challenges, particularly when managing patients with chronic kidney diseases. This report described a 3-year-old female patient who presented with severe anemia and kidney impairment, which progressed to end-stage kidney disease. During blood grouping, she was unexpectedly identified as having the Bombay phenotype, complicating her anemia management. Genetic testing revealed two novel pathogenic variants: one in the
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