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A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene enc...

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Detalhes bibliográficos
Main Authors: Lee, Se Eun, Jung, Yun Hye, Han, Kyoung Hee, Lee, Hyun Kyung, Kang, Hee Gyung, Ha, Il Soo, Choi, Yong, Cheong, Hae Il
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3077507/
https://ncbi.nlm.nih.gov/pubmed/21503203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2011.54.2.90
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