Associated Papers
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
Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Syryn H et al.
Clinical Genetics, 2021
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Grammatikopoulos T et al.
Journal of Hepatology, 2016
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Grati M et al.
Human Molecular Genetics, 2015
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