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Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 6, p. 881, doi. 10.1530/EJE-12-0450
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- Publication type:
- Article
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
- Published in:
- 2010
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- Publication type:
- journal article
A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.
- Published in:
- 2013
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- Publication type:
- journal article
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
- Published in:
- 2013
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- Publication type:
- journal article
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
- Published in:
- 2011
- By:
- Publication type:
- journal article
Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 5, p. 629, doi. 10.1111/cen.12834
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- Publication type:
- Article