Associated Papers
DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2023
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Azabdaftari A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2023
Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children.
Wei X et al.
Frontiers in Pediatrics, 2023
Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Syryn H et al.
Clinical Genetics, 2021
Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.
Slater B et al.
American Journal of Medical Genetics. Part A, 2020
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Grammatikopoulos T et al.
Journal of Hepatology, 2016
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Schueler M et al.
American Journal of Human Genetics, 2015
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