DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.

Patryk Lipiński Elżbieta CiaraDorota JurkiewiczMagda MekroudaJoanna Cielecka-KuszykElżbieta Jurkiewicz Ploski RafalJoanna PawłowskaIrena Jankowska

Published in: Diagnostics (Basel, Switzerland) (2023)

variants, provide a more accurate picture of the phenotypic expression associated with molecular changes in this gene and confirm a loss of functional behaviour as the mechanism of disease.

Keyphrases

end stage renal disease
copy number
newly diagnosed
ejection fraction
chronic kidney disease
poor prognosis
peritoneal dialysis
gene expression
mass spectrometry
patient reported