11β-hydroxylase deficiency caused by a novel CYP11B1 variant: A case report
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroid biosynthesis. 11β-hydroxylase deficiency (11 β-OHD) – caused by a mutation in CYP11B1 – is responsible for 5%–8% of all CAH cases. In the classic form, genotypic female newborns exhibit ambiguous geni...
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| Hoofdauteurs: | , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wolters Kluwer Medknow Publications
2023-01-01
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| Reeks: | Journal of Nature and Science of Medicine |
| Onderwerpen: | |
| Online toegang: | http://www.jnsmonline.org/article.asp?issn=2589-627X;year=2023;volume=6;issue=2;spage=105;epage=108;aulast=Aldosari |
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