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Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
CONTEXT: DAX1 (NR0B1) mutations cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in affected male patients. Affected individuals typically present with early-onset adrenal insufficiency and develop HH during puberty. Rare cases can present with late-onset adre...
Shranjeno v:
| izdano v: | J Endocr Soc |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Endocrine Society
2018
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6316980/ https://ncbi.nlm.nih.gov/pubmed/30620004 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2018-00270 |
| Oznake: |
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