Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2

Pseudohypoaldosteronism type 1 (PHA1) is a disease characterized by neonatal salt loss due to aldosterone resistance. Two types of PHA1 are known: an autosomal recessive systemic form and an autosomal dominant renal form. The cause of the renal form of PHA1 is heterozygous mutations in NR3C2, which...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clin Pediatr Endocrinol
Hauptverfasser: Morikawa, Shuntaro, Komatsu, Nagisa, Sakata, Sonoko, Nakamura-Utsunomiya, Akari, Okada, Satoshi, Tajima, Toshihiro
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Japanese Society for Pediatric Endocrinology 2015
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4639533/
https://ncbi.nlm.nih.gov/pubmed/26594094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.24.135
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge