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Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations
In triple A (Allgrove) syndrome, motor neuron disease is a co-morbid condition. We herein report a 38-year-old Japanese man with triple A (Allgrove) syndrome and novel tandem mutations: a novel c.881delT deletion mutation and c.835C>T localized to the AAAS gene. A nerve conduction study revealed...
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| Udgivet i: | Intern Med |
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| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Japanese Society of Internal Medicine
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7990642/ https://ncbi.nlm.nih.gov/pubmed/33087664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.5201-20 |
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