Article
Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.
Archives of medical research - 1 Feb 2016
Kallabi Fakhri, Belghuith Neila, Aloulou Hajer, Kammoun Thouraya, Ghorbel Soufiane, Hajji Mouna, Gallas Syrine, Chemli Jaleleddine, Chabchoub Imen, Azzouz Hatem, Ben Chehida Amel, Sfaihi Lamia, Makni Saloua, Amouri Ali, Keskes Leila, Tebib Neji, Ben Becher Saayda, Hachicha Monjia, Kamoun Hassen
Abstract excerpt
BACKGROUND AND AIMS: Allgrove syndrome is characterized by achalasia, alacrima, and adrenal insufficiency as well as being associated with progressive neurological signs. This is an autosomal recessive disorder due to mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes a protein of 546 amino acids, ALADIN. Mutations in this genwere reported in families from North Africa and Europe. Our...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.