A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene
نویسندگان
چکیده
Allgrove syndrome, also known as triple A syndrome (OMIM #231550), is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. It is caused by mutations of the AAAS gene, which is located on chromosome 12q13, encoding the WD-repeat protein ALADIN (alacrimaachalasia-adrenal insufficiency neurologic disorder) (1). Herein, we present a case of a twoyear-old girl with a genetically confirmed diagnosis of Allgrove syndrome resulting from a novel homozygous mutation of the AAAS gene.
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