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Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH cases. OBJECTIVES: To characterize the genotype of patients clinically diagnosed with 21OHD and to identify the most frequent mut...
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| 發表在: | BMC Endocr Disord |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7653887/ https://ncbi.nlm.nih.gov/pubmed/33168061 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12902-020-00643-z |
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