Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis
Aysel Ünlüsoy Aksu, Subhash K. Das, Carol Nelson‐Williams, Dhanpat Jain, Ferda Özbay Hoşnut, Gülseren Evirgen Şahin, Richard P. Lifton, Silvia Vilarinho – 13 February 2019 – Undiagnosed liver disease remains an unmet medical need in pediatric hepatology, including children with high gamma‐glutamyltransferase (GGT) cholestasis. Here, we report whole‐exome sequencing of germline DNA from 2 unrelated children, both offspring of consanguineous union, with neonatal cholestasis and high GGT of unclear etiology.