A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant

Abstract Background ZFYVE19 (Zinc Finger FYVE-Type Containing 19) mutations have most recently been associated to a novel type of high gamma-glutamyl transpeptidase (GGT), non-syndromic, neonatal-onset intrahepatic chronic cholestasis possibly associated to cilia dysfunction. Herein, we report a new...

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Bibliographic Details
Main Authors: Claudia Mandato, Maria Anna Siano, Lucia Nazzaro, Monica Gelzo, Paola Francalanci, Francesca Rizzo, Ylenia D’Agostino, Manuela Morleo, Simona Brillante, Alessandro Weisz, Brunella Franco, Pietro Vajro
Format: Article
Language:English
Published: BMC 2021-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cholestasis
Ciliopathy
ZFYVE19
Children
Online Access:https://doi.org/10.1186/s13023-021-01775-8

Internet

https://doi.org/10.1186/s13023-021-01775-8

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