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[From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome]

P L A van Daele, W W de Herder, A Huebner
Nederlands Tijdschrift Voor Geneeskunde 2002 November 30, 146 (48): 2295-7
12497758
Allgrove syndrome (triple A syndrome) is an autosomal recessive disorder characterised by adrenocortical insufficiency, achalasia and alacrima. Patients also suffer from diverse neurological disorders. Allgrove syndrome is caused by mutations in the AAAS gene located at chromosome 12q13, which encodes for a tryptophan-aspartic acid (WD) repeat protein (aladin). The exact function of this protein is still not known.

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