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A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype–phenotype non-concordance
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is caused by the autosomal recessive inheritance of mutations in the gene CYP21A2. CYP21A2 mutations lead to variable impairment of the 21-hydroxylase enzyme, which, in turn, is associated with three clinical phenotypes, namely,...
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| Publicado no: | Ann N Y Acad Sci |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4761329/ https://ncbi.nlm.nih.gov/pubmed/26291314 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/nyas.12864 |
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