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

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 case wi...

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Detalles Bibliográficos
Autores principales: Mandato, Claudia, Siano, Maria Anna, Nazzaro, Lucia, Gelzo, Monica, Francalanci, Paola, Rizzo, Francesca, D’Agostino, Ylenia, Morleo, Manuela, Brillante, Simona, Weisz, Alessandro, Franco, Brunella, Vajro, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048179/
https://www.ncbi.nlm.nih.gov/pubmed/33853651
http://dx.doi.org/10.1186/s13023-021-01775-8

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