A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant
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 choles...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine 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 and Pietro Vajro Tags: Research Source Type: research
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