Associated Papers
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
40274276 (PubMed )
Supplement: CGE-108-412-s001.pdf
Portal hypertension in doublecortin domain-containing protein 2 (DCDC2)-related neonatal sclerosing cholangitis.
Kaur P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2025
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
[Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review].
Li JQ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Grammatikopoulos T et al.
Journal of Hepatology, 2016
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