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
New publication kidney and urinary tract 1 supporting source confidence 97% novelty 75%

Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review

Hepatocyte nuclear factor 1β ( HNF1β )-related disease is a rare autosomal dominant genetic disorder. It presents with diverse clinical phenotypes and involves multiple systems.

More new publication

How this was derived

Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-14, last changed today. Dedup key newdoc:241. 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)

Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review peer_reviewed · published 2025-01-01 · live page
Abnormal uric acid metabolism caused by HNF1β mutation was first reported in 2003, 14 which is possibly related to HNF1β 's ability to regulate transcription of the uromodulin gene encoding uric acid transport proteins.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Atypical presentation of HNF1β gene mutation mimicking type 2 diabe... pmc 2025-01-01 yesterday 1.00