Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.

Cecilia S Fernández Melisa Taboas Carlos David BruqueBelén Benavides-MoriSusana BelliMirta StivelAdriana OnetoTitania PasqualiniMarisol Delea Lucía Daniela Espeche Jorge E KolomenskiLiliana AlbaNoemí BuzzalinoLiliana Beatriz Dain

Published in: Clinical endocrinology (2020)

We conducted a comprehensive genetic characterization of the largest cohort of 21-hydroxylase patients from the region. In particular, we add to the molecular characterization of a large number of NC patients and to the estimation of the disease carrier's frequency in our population.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
patient reported outcomes
replacement therapy