Ontology highlight
ABSTRACT:
SUBMITTER: Bizzarri C
PROVIDER: S-EPMC3704905 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Bizzarri Carla C Benevento Danila D Terzi Cesare C Huebner Angela A Cappa Marco M
Italian journal of pediatrics 20130624
Triple A (Allgrove) syndrome was first described by Allgrove in 1978 in two pairs of siblings. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritance. Clinical picture is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure. A progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation is often associated. The triple A syndrome gene, designate ...[more]