RASopathy
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RASopathy
The RASopathies are developmental syndromes caused by germline mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinase that control Signal transduction, including:[1][2]
- Capillary malformation-AV malformation syndrome
- Autoimmune lymphoproliferative syndrome
- Costello syndrome
- Hereditary Gingival fibromatosis type 1
- Legius syndrome
- LEOPARD syndrome
- Neuro-cardio-facial-cutaneous syndromes
- Neurofibromatosis type 1
- Noonan syndrome
References
- ^ About RAS Pathway Syndromes
- ^ Schuhmacher AJ, Guerra C, Sauzeau V, Cañamero M, Bustelo XR, Barbacid M (June 2008). "A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition". J. Clin. Invest. 118 (6): 2169–79. doi:10.1172/JCI34385. PMC 2381749. PMID 18483625. http://www.jci.org/articles/view/34385.
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