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Triple A Syndrome: Two Siblings with a Novel Mutation in the AAAS Gene
OBJECTIVE: Triple A syndrome is a rare autosomal recessive disorder caused by mutations in the AAAS gene on chromosome 12q13. Its main clinical features are alacrima, achalasia and adrenal insufficiency, with most patients also having neurological symptoms and autonomic dysfunction. The neurologic m...
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| Опубликовано в: : | Hormones (Athens) |
|---|---|
| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6447433/ https://ncbi.nlm.nih.gov/pubmed/30612286 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s42000-018-0089-2 |
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