Biology:RASopathy
From HandWiki
Short description: Family of genetic conditions caused by mutations affecting Ras genes
The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction,[citation needed] 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[1]
- Legius syndrome, Noonan-like
- Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan-like
- SYNGAP1-related intellectual disability
References
- ↑ "A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition". J. Clin. Invest. 118 (6): 2169–79. June 2008. doi:10.1172/JCI34385. PMID 18483625.
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