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: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…

A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.”

How this was derived

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

Generated 2026-11-13, last changed today. Dedup key expansion:c23f86. 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 (2 quotes)

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.

Supporting documents (2)

StorySourcePublishedSeenRelevance
School level of children carrying a HNF1B variant or a deletion. pubmed 2020-01-01 yesterday 1.00
New case of syncytial giant-cell variant of hepatocellular carcinom... pubmed 2022-12-01 yesterday 1.00