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Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency (11β-OHD) is a rare form of CAH associated with low renin hypertension, hypokalemia, hyperandrogenemia and ambiguous genitalia in affected females. Herein we describe the clinical, hormonal and molecular chara...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912772/ https://www.ncbi.nlm.nih.gov/pubmed/27316665 http://dx.doi.org/10.1186/s12902-016-0118-6 |