17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…

A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver enzyme elevations, and a complex Müllerian anomaly requiring surgical correction.”

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in openalex.

Generated 2026-11-14, last changed today. Dedup key expansion:5bdcc0. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver enzyme elevations, and a complex Müllerian anomaly requiring surgical correction.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... openalex 2026-06-11 yesterday 1.00