Associated Papers
A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency.
Hoseinzadeh M et al.
Laboratory Medicine, 2023
Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery.
Rossi GM et al.
Journal of Nephrology, 2020
Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
Shammas C et al.
Hormones (athens, Greece), 2016
Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
Nguyen HH et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2016
Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.
Nguyen HH et al.
Gene, 2012
Select a paper to view details