Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

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Genetics of congenital adrenal hyperplasia.Congenital Adrenal Hyperplasia.Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

P2860

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P2860

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

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Characterization of the molecu ...... th 11β-hydroxylase deficiency.

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Characterization of the molecu ...... th 11β-hydroxylase deficiency.

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Characterization of the molecu ...... th 11β-hydroxylase deficiency.

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P1476

Characterization of the molecu ...... th 11β-hydroxylase deficiency.

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Ian T Rose

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John A H Wass

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John M C Connell

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Silvia Parajes

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Taner Bayraktaroglu

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Wiebke Arlt

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P2860

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.

Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients.

Nonclassic adrenal hyperplasia.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Premature adrenarche: novel lessons from early onset androgen excess.

11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension.

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629-635

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scholarly article

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10.1111/CEN.12834

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P478

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2015-06-06T00:00:00Z

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26053152

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Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

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P2860

P2860

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

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type

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P1433

P1476

P2093

P2860

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P356

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P577

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P1433

P1476

P2093

P2860

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P31

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P577

P698