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A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism

BACKGROUND: Pseudohypoaldosteronism type II (PHAII), also called Gordon syndrome, is a rare hereditary disease caused by variants in the WNK1, WNK4, KLHL3 and CUL3 genes. The combination of PHAII with hyperthyroidism and secondary hyperparathyroidism has not been reported previously. CASE PRESENTATI...

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Detalles Bibliográficos
Autores principales: Zhang, Rui, Zhang, Simin, Luo, Yingying, Li, Meng, Wen, Xin, Cai, Xiaoling, Han, Xueyao, Ji, Linong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141237/
https://www.ncbi.nlm.nih.gov/pubmed/34022862
http://dx.doi.org/10.1186/s12902-021-00767-w