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Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review

Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid diagnosis and a specific treatment.

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How this was derived

Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:371. 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 the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic features (including hypopituitarism secondary to PSIS) and a final diagnosis of 17q12 deletion syndrome (including the HNF1β gene).

Supporting documents (1)

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