Ontology highlight
ABSTRACT:
SUBMITTER: Martinez-Quintana E
PROVIDER: S-EPMC3507272 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Martínez-Quintana E E Rodríguez-González F F
Molecular syndromology 20120829 4
The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not ...[more]