Ontology highlight
ABSTRACT:
SUBMITTER: Shah SWH
PROVIDER: S-EPMC5768854 | biostudies-literature | 2017 Nov-Dec
REPOSITORIES: biostudies-literature
Shah S Waqar H SWH Butt Arshad K AK Malik K K Alam Altaf A Shahzad Adnan A Khan Anwaar A AA
Pakistan journal of medical sciences 20171101 6
Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder). This report relates to two si ...[more]