Article
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Liver international : official journal of the International Association for the Study of the Liver - 1 May 2023
Azabdaftari Aline, Sczakiel Henrike L, Danyel Magdalena, Kohlmaier Benno, Mache Christoph J, Stalke Amelie, Pfister Eva-Doreen, Thumfart Julia, Henning Stephan, Knisely A S, Bufler Philip
Abstract excerpt
Neonatal sclerosing cholangitis (NSC) is associated with progressing biliary fibrosis that often requires liver transplantation in childhood. Several recent studies have identified variants in DCDC2, encoding doublecortin domain-containing protein 2 (DCDC2), expressed in primary cilia, that accompany syndromic disease and NSC. We report four patients with hepatobiliary disease associated with two novel homozygous...
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