An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant

Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hype...

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Detalles Bibliográficos
Autores principales: Noda, Saki, Aoyama, Kohei, Kondo, Yuto, Okamura, Jun, Suzuki, Atsushi, Yamaguchi, Naoya, Yoshida, Aya, Miyake, Yoshishige
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602301/
https://www.ncbi.nlm.nih.gov/pubmed/34795218
http://dx.doi.org/10.1038/s41439-021-00173-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602301/
https://www.ncbi.nlm.nih.gov/pubmed/34795218
http://dx.doi.org/10.1038/s41439-021-00173-7

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