Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

BACKGROUND: X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appears in the first 2 months of life, but can sometimes emerge...

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Detalles Bibliográficos
Autores principales: Iughetti, Lorenzo, Lucaccioni, Laura, Bruzzi, Patrizia, Ciancia, Silvia, Bigi, Elena, Madeo, Simona Filomena, Predieri, Barbara, Roucher-Boulez, Florence
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549270/
https://www.ncbi.nlm.nih.gov/pubmed/31164167
http://dx.doi.org/10.1186/s12881-019-0834-7

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