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

Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report

Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report Introduction: 17q12 deletion features kidney/genital abnormalities, maturity-onset diabetes of the young, and bile duct hypoplasia.

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:555. 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 Introduction: 17q12 deletion features kidney/genital abnormalities, maturity-onset diabetes of the young, and bile duct hypoplasia.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Chromosome 17q12 deletion, including HNF1B presenting with recurren... openalex 2026-03-26 yesterday 1.00