Neonatal cholestatic cirrhosis in an infant with dehydrated hereditary stomatocytosis due to a PIEZO1 mutation: a rare association

Abstract Background Neonatal cholestasis is a multifactorial disorder that may result from metabolic, infectious, or genetic etiologies. Dehydrated hereditary stomatocytosis (DHS), a rare autosomal dominant hemolytic anemia caused by PIEZO1 gene mutations, is primarily a hematologic condition. Hepat...

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Prif Awduron:	Deepak Borde, Vishal Sawant, Sushma Save, Alpana Kondekar
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	SpringerOpen 2025-12-01
Cyfres:	Egyptian Pediatric Association Gazette
Pynciau:	Neonatal cholestasis Cirrhosis Dehydrated hereditary stomatocytosis PIEZO1 mutation Hepatosplenomegaly
Mynediad Ar-lein:	https://doi.org/10.1186/s43054-025-00481-5
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