Article
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Clinical genetics - 1 Sept 2024
Vogel Georg-Friedrich, Podpeskar Alexandra, Rieder Dietmar, Salzer Helin, Garczarczyk-Asim Dorota, Wang Li, Abuduxikuer Kuerbanjiang, Wang Jian-She, Scharrer Anke, Faqeih Eissa Ali, Aseeri Ali T, Vodopiutz Julia, Heilos Andreas, Pichler Judith, Huber Wolf-Dietrich, Müller Thomas, Knisely A S, Janecke Andreas R
Abstract excerpt
Exome sequencing (ES) has identified biallelic kinesin family member 12 (KIF12) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively referred pediatric patients at our centers, diagnostic ES identified 4 patients with novel, biallelic KIF12 variants using the human GRCh38 reference sequence, as KIF12 remains incompletely...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.