Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency
Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme. This gene is susceptible to deletions and duplications due to th...
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| Автори: | , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Wolters Kluwer Medknow Publications
2022-01-01
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| Серія: | Indian Pediatrics Case Reports |
| Предмети: | |
| Онлайн доступ: | http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=1;spage=47;epage=51;aulast=Dubey |
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