A Novel NR3C2 Mutation in a Japanese Patient with the Renal Form of Pseudohypoaldosteronism Type 1

Overview

Journal Clin Pediatr Endocrinol

Specialty Pediatrics

Date 2016 Aug 11

PMID 27507913

Citations 3

Authors

Toshiki Tsunogai

Ichiro Miyata

Saori Kotake

Ryuki Matsuura

Ken Takagi

Hiroyuki Nanba

Noriko Takahata

Toshihiro Tajima

Yasuyuki Wada

Affiliations

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Citing Articles

Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation.

Alsaleh Y, Al Ghadeer H, Aljabri A, Alhashim Z, Mohamed M, Busaleh F Cureus. 2024; 16(3):e57217.

PMID: 38681476 PMC: 11056278. DOI: 10.7759/cureus.57217.

One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.

Yakubov R, Ayman A, Klein Kremer A, van den Akker M J Med Case Rep. 2019; 13(1):386.

PMID: 31883531 PMC: 6935476. DOI: 10.1186/s13256-019-2319-x.

Clinical features and molecular basis of pseudohypoaldosteronism type 1.

Tajima T, Morikawa S, Nakamura A Clin Pediatr Endocrinol. 2017; 26(3):109-117.

PMID: 28804203 PMC: 5537208. DOI: 10.1297/cpe.26.109.

References

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Riepe F . Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res. 2009; 72(1):1-9. DOI: 10.1159/000224334. View

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