RASopathy
The RASopathies are developmental syndromes caused by germline mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinases that control signal transduction, including:
Capillary malformation-AV malformation syndrome
Autoimmune lymphoproliferative syndrome
Cardiofaciocutaneous syndrome CFC syndrome
Hereditary Gingival fibromatosis type 1
Neurofibromatosis type 1
Noonan syndrome
Costello syndrome, Noonan-like
Legius syndrome, Noonan-like
LEOPARD syndrome, Noonan-like
External links
RASopathies Network USA, founded 2010 rasopathiesnet.org, accessed February 27,2014
About RAS Pathway Syndromes RASopathy Network, RAS-Pathway-syndromes.com,accessed February 27,2014.
References