Fakhri Kallabi, Neila Belghuith, Hajer Aloulou, Thouraya Kammoun, Soufiane Ghorbel, Mouna Hajji, Syrine Gallas, Jaleleddine Chemli, Imen Chabchoub, Hatem Azzouz, Amel Ben Chehida, Lamia Sfaihi, Saloua Makni, Ali Amouri, Leila Keskes, Neji Tebib, Saayda Ben Becher, Monjia Hachicha, Hassen Kamoun
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 objective is to conduct a clinical, molecular and genetic study of 26 Tunisian patients with Allgrove syndrome...
February 2016: Archives of Medical Research