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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...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMJ Publishing Group
2009
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| Предметы: | |
| Online-ссылка: | 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 |
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