Article
Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Clinical genetics - 1 Oct 2021
Syryn Hannes, Hoorens Anne, Grammatikopoulos Tassos, Deheragoda Maesha, Symoens Sofie, Vande Velde Saskia, Van Biervliet Stephanie, Van Winckel Myriam, Verloo Patrick, Callewaert Bert, De Bruyne Ruth
Abstract excerpt
Ciliopathies are a group of clinical and molecular heterogeneous conditions with pleiotropic manifestations affecting the central nervous system, renal, liver, skeletal, and ocular systems. Biallelic pathogenic variants in DCDC2 cause a ciliopathy primarily presenting with neonatal sclerosing cholangitis (NSC). Pathogenic variants in DCDC2 have further been reported in the context of nephronophthisis and...
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