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: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…

A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”

More phenotype expansion

How this was derived

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

Generated 2026-11-13, last changed today. Dedup key expansion:f16fb7. 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)

A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied peer_reviewed · published 2024-01-01 · live page
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes wit... pmc 2024-01-01 yesterday 1.00