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Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases

Allgrove syndrome (AS) is an autosomal recessive congenital disease, caused by mutations in the AAAS gene, and is characterized by the triad of Addison's disease, achalasia and alacrima. The present study describes three newly diagnosed cases of AS, in which genetic analysis of the AAAS gene wa...

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Detalles Bibliográficos
Autores principales: LI, WENJING, GONG, CHUNXIU, QI, ZHAN, WU, DI, CAO, BINGYAN
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578041/
https://www.ncbi.nlm.nih.gov/pubmed/26622478
http://dx.doi.org/10.3892/etm.2015.2677