17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication kidney and urinary tract 1 supporting source confidence 97% novelty 75%

Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review

Background Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic disturbances, collectively referred to as HNF1B-related disease.

How this was derived

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

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:553. 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)

Case presentation We describe two unrelated female children presenting with transient NDM caused by a complete HNF1B gene deletion.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Transient neonatal diabetes mellitus as an early diagnostic clue to... openalex 2026-04-16 yesterday 1.00