Ontology highlight
ABSTRACT:
SUBMITTER: Rauen KA
PROVIDER: S-EPMC4275383 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20141112 1
Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent ...[more]