Biallelic mutations in TTC26 (IFT56) cause severe biliary ciliopathy in humans.
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DOI: 10.1002/hep.30982
Abstract: The clinical consequences of defective primary cilium (ciliopathies) are characterized by marked phenotypic and genetic heterogeneity. Although fibrocystic liver disease is an established ciliopathy phenotype, severe neonatal cholestasis is rarely recognized as such. We describe… read more here.
Keywords: severe neonatal; cause; neonatal cholestasis; ttc26 ift56 ... See more keywords