17q12 Knowledge Basedeletion syndrome · static snapshot
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Source updated kidney and urinary tract 1 supporting source confidence 80% novelty 80%

Updated: Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia duri

pubmed changed: +3/-8 sentences since the previous capture.

How this was derived

Version 2 captured 2026-11-14. Newly added text includes: “Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report. 17q12 deletion features kidney/genital abnormalities, maturity-onset diabetes of the young, and bile duct hypoplasia. 17q12 deletion should be considered in the differential diagnosis when severely elevated bile acids are encountered during pregnancy,”

Generated 2026-11-14, last changed today. Dedup key update:18. 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)

Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report. 17q12 deletion features kidney/genital abnormalities, maturity-onset diabetes of the young, and bile duct hypoplasia. 17q12 deletion should be considered in the differential diagnosis when severely elevated bile acids are encountered during pregnancy,

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Chromosome 17q12 deletion, including HNF1B presenting with recurren... pubmed 2026-05-01 yesterday 1.00