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Article

Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.

Archives of medical research - 1 Feb 2011

Yassaee Vahid Reza, Soltani Ziba, Ardakani Bahareh Malekafzali

Abstract excerpt

BACKGROUND AND AIMS: Allgrove (OMIM#231550) or Triple-A syndrome is a rare, autosomal recessive disorder characterized by the triad of familial adrenal insufficiency, achalasia, and alacrima. Approximately one-half of all patients with Triple-A syndrome have been shown to have mutations in the AAAS gene on chromosome 12q13, which results in loss or non-function of the encoded protein. METHODS: Five unrelated...

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Identifiers

PMID: 21565631
DOI: 10.1016/j.arcmed.2011.02.006

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