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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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Bibliografski detalji
Izdano u:Intern Med
Glavni autori: Miyazawa, Haruna, Kimura, Manami, Yonezawa, Hisashi, Maeda, Tetsuya
Format: Artigo
Jezik:Inglês
Izdano: The Japanese Society of Internal Medicine 2020
Teme:
Online pristup: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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