Van gen naar ziekte; bijnierinsufficiëntie, achalasie en gestoorde traansecretie: De ziekte van allgrove

Research output: Contribution to journal › Research article › Contributed › peer-review

Contributors

  • P. L.A. Van Daele - , Erasmus University Rotterdam (Author)
  • W. W. De Herder - , Erasmus University Rotterdam (Author)
  • A. Huebner - , Department of Paediatrics, Erasmus University Rotterdam, Department of Child and Adolescent Psychiatry and Psychotherapy , TUD Dresden University of Technology (Author)

Abstract

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.

Translated title of the contribution
From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion
Allgrove syndrome

Details

Original languageDutch
Pages (from-to)2295-2297
Number of pages3
Journal Nederlands tijdschrift voor geneeskunde : NTvG ; tevens orgaan der Nederlandsche Maatschappij tot Bevordering der Geneeskunde
Volume146
Issue number48
Publication statusPublished - 30 Nov 2002
Peer-reviewedYes

External IDs

PubMed 12497758

Keywords

ASJC Scopus subject areas