17q12 Knowledge Basedeletion syndrome · static snapshot
Adults Scientists Kids EN NL
All content was collected from public internet sources and processed with the help of AI/LLM software. This site is informative only — do not draw conclusions; verify with the original sources. Full disclaimer
Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…

A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”

More phenotype expansion

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:000450. 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)

Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia. peer_reviewed · published 2024-01-01 · live page
Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Hepatocyte nuclear factor 1B deletion, but not intragenic mutation,... pubmed 2024-01-01 yesterday 1.00