Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1-Reference-Cited by-同舟云学术

Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1

Published:2018-06-17 Issue:1 Volume:35 Page:23-27
ISSN:0951-3590
Container-title:Gynecological Endocrinology
language:en
Short-container-title:Gynecological Endocrinology

Author:

Zacharieva Sabina¹,Robeva Ralitsa¹^ORCID,Andonova Silvia²,Vazharova Radoslava³⁴,Balabanski Lubomir³,Atanasoska Maya³,Toncheva Draga⁴⁵,Elenkova Atanaska¹,Savov Alexey²

Affiliation:

1. Clinical Center of Endocrinology and Gerontology, Medical Faculty, Sofia Medical University, Sofia, Bulgaria;

2. National Genetic Laboratory, UHOG “Maichin dom”, Medical Faculty, Sofia Medical University, Sofia, Bulgaria;

3. Gynecology and Assisted Reproduction Hospital “Malinov DM”, Sofia, Bulgaria;

4. Department of Biology, Medical Genetics and Microbiology, Faculty of Medicine, Sofia University “St. Kliment Ohridski”, Sofia, Bulgaria;

5. Department of Medical Genetics, Sofia Medical University, Sofia, Bulgaria

Publisher

Informa UK Limited

Subject

Obstetrics and Gynecology,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.1080/09513590.2018.1482870

Reference33 articles.

1. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

2. Congenital Adrenal Hyperplasia: 11β-Hydroxylase Deficiency

3. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

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

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

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