Associated Papers
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.
Janot C et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL et al.
World Journal of Pediatrics : Wjp, 2024
Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.
Zacharieva S et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2019
Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.
Xu L et al.
Steroids, 2015
Congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency.
White PC
Advances in Experimental Medicine and Biology, 2011
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Zhao LQ et al.
World Journal of Pediatrics : Wjp, 2008
Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family.
Peters CJ et al.
Hormone Research, 2007
Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: a case report and review of the literature.
Bhangoo A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2006
[11beta-hydroxylase deficiency].
Mello MP et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M et al.
Hormone Research, 1999
CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Joehrer K et al.
Human Molecular Genetics, 1997
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.
Cerame BI et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0
[Substitution hormonal therapy in congenital adrenocortical hyperplasia, caused by 21-hydroxylase deficiency (lecture)].
Tiul'pakov AN
Problemy Endokrinologii, 0