Endocrine Abstracts

Triple A syndrome is is a rare autosomal recessive disorder characterised by achalasia, alacrima, adrenocorticotropin-resistant adrenal insufficiency and a variable and progressive neurological phenotype. The AAAS gene encodes a 60kD WD-repeat nuclear pore protein named ALADIN (alacrima, achalasia, adrenal insufficiency neurologic disorder); its function and tissue distribution are unknown. In this study we performed in situ hybridization with 35S end-labelled AAAS mRNA oligon...