A carregar...
Triple A syndrome: two novel mutations in the AAAS gene
Triple A syndrome is a rare disease of autosomal recessive inheritance. It was first described in 1978. The typical triad includes adrenocorticotrophic-hormone-resistant glucocorticoid insufficiency, reduced or absent tearing (alacrima) and achalasia. But clinical symptoms can be extremely heterogen...
Na minha lista:
| Main Authors: | , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2009
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3027378/ https://ncbi.nlm.nih.gov/pubmed/21686524 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.09.2008.0984 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|