bn:02728639n
Noun Concept
Categories: Deficiencies of intracellular signaling peptides and proteins, Valvular heart disease, Lymphocytic immune system disorders, Enzyme defects, Developmental neuroscience
EN
RASopathy
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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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
Family of genetic conditions caused by mutations affecting Ras genes Wikidata
A developmental syndrome caused by a defect in the genes of the RAS/MAPK pathway. Wiktionary
Wikipedia
Wikidata
Wiktionary