Ontology highlight
ABSTRACT:
SUBMITTER: Correa R
PROVIDER: S-EPMC4553126 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
European journal of endocrinology 20150630 4
Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunit ...[more]