17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by …

A source describes a new or expanded observation: “Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by the clinical findings seen in fully established disease consisting of cirrhosis, diabetes, and skin pigmentation (so-called "bronze diabetes").”

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:f1f54b. 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)

Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by the clinical findings seen in fully established disease consisting of cirrhosis, diabetes, and skin pigmentation (so-called "bronze diabetes").

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Application of array-comparative genomic hybridization in tetralogy... pubmed 2016-12-01 yesterday 1.00