Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report
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DOI: 10.1186/s12887-018-1161-4
Abstract: BackgroundAllgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation… read more here.
Keywords: allgrove syndrome; 1331 mutation; report; aaas gene ... See more keywords
Allgrove Syndrome in Iranian Patients and Report on a Novel Mutation in AAAS Gene
Sign Up to like & getrecommendations! Published in 2018 at "Iranian Journal of Pediatrics"
DOI: 10.5812/ijp.6921
Abstract: : Allgrove syndrome (triple A syndrome) is a rare autosomal recessive condition with adrenal insufficiency, achalasia and alacrima. This syndrome is caused by mutations in AAAS gene. In this article we introduce six patients of… read more here.
Keywords: allgrove syndrome; iranian patients; aaas gene; gene ... See more keywords