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)
Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
peer_reviewed
· published 2026-10-12
· live page
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)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutati... | openalex | 2026-10-12 | yesterday | 1.00 |