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

Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report

Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report Background: HNF1B-related disease is an autosomal dominant disorder caused by mutations or whole-gene deletions in the hepatocyte nuclear factor 1-beta (HNF1B) gene on chromosome 17q12, encoding a transcription factor essential for kidney, pancreas, liver, and urogenital development.

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:544. 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)

It is the most frequent monogenic cause of congenital anomalies of the kidney and urinary tract (CAKUT), accounting for 10-30% of cases.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutati... openalex 2026-10-12 yesterday 1.00