Articles with "ttc26 ift56" as a keyword



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Biallelic mutations in TTC26 (IFT56) cause severe biliary ciliopathy in humans.

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Published in 2019 at "Hepatology"

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