17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported Kidneys and diabetes 1 supporting source confidence 97% novelty 90%

Someone reported something new: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…

A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and low but detectable concentration of C‐peptide (0.2 nmol/L with N: 0.4‐1.2 nmol/L).”

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How this was derived

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

Generated 2026-11-14, last changed today. Dedup key expansion:a43bda. 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)

Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease. peer_reviewed · published 2024-01-01 · live page
The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and low but detectable concentration of C‐peptide (0.2 nmol/L with N: 0.4‐1.2 nmol/L).

Supporting documents (1)

StorySourcePublishedSeenRelevance
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... pubmed 2024-01-01 yesterday 1.00