Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.

Ranad ShaheenSaud AlsahliNour EwidaFatema AlzahraniHanan E ShamseldinNisha PatelAwad Al QahtaniHomoud AlhebbiAmal AlhashemTarfa Al-SheddiRana AlomarEman AlobeidMohamed AbouelhodaDorota MoniesAbdulrahman Al-HussainiMuneerah A AlzoumanMohammad ShagraniEissa FaqeihFowzan S Alkuraya

Published in: Hepatology (Baltimore, Md.) (2020)

In addition to establishing a TTC26-related ciliopathy phenotype in humans, our results highlight the importance of considering ciliopathies in the differential diagnosis of severe neonatal cholestasis even in the absence of more typical features.

Keyphrases

drug induced
early onset
intellectual disability
autism spectrum disorder