Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a newborn with severe recessive PHA1 caused by two heterozygous mutations in NR3C2, gene coding for the m...

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Detalhes bibliográficos
Main Authors: Hubert, Edwige-Ludiwyne, Teissier, Raphaël, Fernandes-Rosa, Fábio L., Fay, Michel, Rafestin-Oblin, Marie-Edith, Jeunemaitre, Xavier, Metz, Chantal, Escoubet, Brigitte, Zennaro, Maria-Christina
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2011
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3279993/
https://ncbi.nlm.nih.gov/pubmed/21903996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2011030245
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