bn:02728639n
Noun Concept
FR
RASopathie
EN
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 Hereditary gingival fibromatosis type 1 Neurofibromatosis type 1 Noonan syndrome Costello syndrome, Noonan-like Legius syndrome, Noonan-like Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan-like. Wikipedia
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