Case report: ZFYVE19 gene mutation is associated with familial cholestasis

Authors: Mei-Yan Xue, Ling-Ling Huang, Yue-Yong Zhu, Qi Zheng

Source: Frontiers in Medicine, Vol 11 (2025)

Subject Terms: cholestasis, ZFYVE19, gene detection, liver cirrhosis, hereditary, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1400475/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/0a2f01868a8044388ee9908f6c6035af

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

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

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Subject Terms: Cholestasis, Ciliopathy, ZFYVE19, Children, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/f7df835d169b48d499c236df0dd1e0c7