Condition: Noonan Syndrome 5
rs121434594 in
RAF1 gene and
Noonan Syndrome 5
PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.
PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.