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Article

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

Orphanet journal of rare diseases - 14 Apr 2021

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

Abstract excerpt

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 with further studies of whole exome sequencing (WES) and immunofluorescence in primary cilia of her cultured...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33853651
DOI: 10.1186/s13023-021-01775-8
PMCID: PMC8048179

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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