IMPE Abstracts

Background: Allgrove syndrome (AS) (OMIM MIM*231550) is a rare autosomal recessive multi-system disorder caused by a defect in the nucleoporin ALADIN due to mutations in the corresponding AAAS gene. It is characterized by adrenal insufficiency, achalasia, alacrima, and neurologic impairments. Here, we are presenting a large cohort of this syndrome from one country, highlighting the phenotype-genotype correlation in our patients and reflecting our difficulties ...