Definition of RASopathy. Meaning of RASopathy. Synonyms of RASopathy

Here you will find one or more explanations in English for the word RASopathy. Also in the bottom left of the page several parts of wikipedia pages related to the word RASopathy and, of course, RASopathy synonyms and on the right images related to the word RASopathy.

Definition of RASopathy

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Meaning of RASopathy from wikipedia

- The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include...
- disease in the RASopathy family of diseases, which include Costello Syndrome, Noonan Syndrome, and Cardiofaciocutaneous syndrome. The RASopathies also present...
- short stature. The pathophysiology of all three conditions fits into the RASopathy model. Westerhof syndrome List of cutaneous conditions Boxel-Woolf, Tom...
- dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves attenuation of the RAS/MAPK...
- short stature and many have reduced levels of growth hormones. It is a RASopathy.[citation needed] Beginning in early childhood, people with specific mutations...
- indicative of schwannomatosis. The neurofibromatoses are considered as RASopathies and as members of the neurocutaneous syndromes (phakomatoses). The diagnosis...
- condition's symptoms is not well known; however, research is ongoing. It is a RASopathy. Noonan syndrome with multiple lentigines is caused by a different missense...
- with intellectual disability, neuro-cardio-facial-cutaneous syndromes, RASopathies, ectodermal dysplasias, and certain myopathies. Physicians can often...
- are absent in Legius syndrome. Legius syndrome is a phakomatosis and a RASopathy, a developmental syndrome due to germline mutations in genes. The condition...
- hemorrhagic telangiectasia. AVMs are usually congenital and are part of the RASopathy family of developmental syndromes. The understanding of the anomaly's...