Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases
نویسندگان
چکیده
منابع مشابه
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 was used to identify AAAS gene mutations, to enhance the understanding of the pathogenesis and clinical ...
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ژورنال
عنوان ژورنال: Experimental and Therapeutic Medicine
سال: 2015
ISSN: 1792-0981,1792-1015
DOI: 10.3892/etm.2015.2677