An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2

Takeshi Goda; Hiroshi Komatsu; Kandai Nozu; Hisakazu Nakajima

doi:10.1297/cpe.29.127

An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2

Clin Pediatr Endocrinol. 2020;29(3):127-130. doi: 10.1297/cpe.29.127. Epub 2020 Jul 11.

Authors

Takeshi Goda^{1

2}, Hiroshi Komatsu², Kandai Nozu³, Hisakazu Nakajima^{2

4}

Affiliations

¹ Department of Pediatrics, Kyoto Chubu Medical Center, Kyoto, Japan.
² Department of Pediatrics, National Hospital Organization Maizuru Medical Center, Kyoto, Japan.
³ Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
⁴ Department of Pediatrics, North Medical Center Kyoto Prefectural University of Medicine, Kyoto, Japan.

No abstract available

Keywords: mineralocorticoid receptor (MR); novel mutation; nuclear receptor subfamily 3 group C member 2 (NR3C2); pseudohypoaldosteronism type 1 (PHA1).