17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported What it can look like 1 supporting source confidence 97% novelty 90%

Someone reported something new: We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting wi…

A source describes a new or expanded observation: “We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting with multiple abnormalities, including pituitary stalk interruption syndrome and consequent hypopituitarism.”

More something new reported

How this was derived

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

Generated 2026-11-13, last changed yesterday. Dedup key expansion:8dda79. 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)

Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review peer_reviewed · published 2025-01-01 · live page
We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting with multiple abnormalities, including pituitary stalk interruption syndrome and consequent hypopituitarism.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Severe neonatal cholestasis in HNF1β deficiency: a case report and ... pmc 2025-01-01 yesterday 1.00