Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review

Article

Abstract: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder characterized by severe

Palabras claves:

Aldosterone synthesis, CYP11B2 mutations, Hypoaldosteronism, next-generation sequencing

Autores:

Chen S., Gong F., Jiang J., Liu J., Lu L., Lu Z., Miao H., Pan H., Richard J. Auchus, Yu Z., Zhu H.

Fuentes:

scopus