A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the NR3C2 Gene at 4q31.23

Dehydration with hyponatremia can occur from a variety of causes and can be potentially fatal to infants. Pseudohypoaldosteronism type 1 (PHA1) is a rare disease that can cause severe dehydration along with hyponatremia and hyperkalemia because of renal tubular unresponsiveness to mineralocorticoids...

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Detalles Bibliográficos
Autores principales: Kim, Su Jin, Park, Dasom, Jang, Woori, Lee, Juyoung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700017/
https://www.ncbi.nlm.nih.gov/pubmed/34943285
http://dx.doi.org/10.3390/children8121090

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700017/
https://www.ncbi.nlm.nih.gov/pubmed/34943285
http://dx.doi.org/10.3390/children8121090

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