Portal hypertension in doublecortin domain-containing protein 2 (DCDC2) related neonatal sclerosing cholangitis.
Sign Up to like & getrecommendations! Published in 2024 at "Journal of pediatric gastroenterology and nutrition"
DOI: 10.1002/jpn3.12414
Abstract: Mutations in doublecortin domain-containing protein 2 (DCDC2) lead to neonatal sclerosing cholangitis (NSC), and portal hypertension (PHTN). The objective of the study was to systematically evaluate PHTN, variceal bleeding, and outcomes of patients with DCDC2-related… read more here.
Keywords: containing protein; neonatal sclerosing; dcdc2 related; doublecortin domain ... See more keywords
DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases
Sign Up to like & getrecommendations! Published in 2023 at "Diagnostics"
DOI: 10.3390/diagnostics13111917
Abstract: Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report… read more here.
Keywords: dcdc2 related; related ciliopathy; disease; novel dcdc2 ... See more keywords