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
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Syryn H et al.
Clinical Genetics, 2021
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 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
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