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Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review
BACKGROUND: 11β-hydroxylase deficiency (11OHD) is extremely rare, and reports of non-classical 11OHD are even rarer. Non-classical 11OHD usually presents as premature adrenarche, hyperandrogenism, menstrual disorders, and hypertension. Because the symptoms of non-classical 11OHD are mild, delayed di...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139905/ https://www.ncbi.nlm.nih.gov/pubmed/30223866 http://dx.doi.org/10.1186/s13048-018-0450-8 |