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FRI160 Pseudohypoaldosteronism Type 1- A Rare Mutation In The NR3C2 Gene

Disclosure: J.A. Siddiqui: None. C. Mintz: None. R. Rapaport: None. Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. It is a rare condition that has been estimated to affect 1 in 80,000 newborns. A previou...

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Detalles Bibliográficos
Autores principales: Wahid Siddiqui, Juwairriyyah Abdul, Mintz, Cassie, Rapaport, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554105/
http://dx.doi.org/10.1210/jendso/bvad114.1725