Delayed Diagnosis of X-Linked Adrenal Hypoplasia Congenita in a Boy with a Novel <i>NR0B1</i> Variant: A Case Report
NR0B1 (DAX-1) is an orphan nuclear receptor essential for the development and regulation of the adrenal glands and gonads. Pathogenic variants in <i>NR0B1</i> cause X-linked adrenal hypoplasia congenita (AHC), which typically presents with adrenal insufficiency and hypogonadotropic hypogonadism (HH)...
保存先:
| 主要な著者: | , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
MDPI AG
2025-10-01
|
| シリーズ: | Children |
| 主題: | |
| オンライン･アクセス: | https://www.mdpi.com/2227-9067/12/11/1469 |
| タグ: |
タグなし, このレコードへの初めてのタグを付けませんか!
|