A carregar...
A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita
A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH. Family history revealed that two maternal uncles had died...
Na minha lista:
| Main Authors: | , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3479083/ https://ncbi.nlm.nih.gov/pubmed/17308433 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000099835 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|