Costello syndrome
Evidence-based neurology checklist on costello syndrome: Genetics This is caused by mutations in the HRAS gene Cranial features Dermatological features Cardiac features Cancer risk Posterior fossa features Respiratory features Other features
Genetics
- This is caused by mutations in the HRAS gene
Cranial features
Dermatological features
Cardiac features
Cancer risk
Posterior fossa features
Respiratory features
Other features
References
- Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. J Med Genet 2006; 43:833-842.
- Narumi Y, Aoki Y, Niihori T, et al. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A 2007; 143A:799-807.
- Lloreda-Garcia JM, Pina-Molina JM, Fernández-Fructuoso JR. Deep palmar and plantar creases in Costello syndrome. J Pediatr 2018; 201:292.
- Girisha KM, Lewis LE, Phadke SR, Kutsche K. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. Am J Med Genet A 2010; 152A:2861-2864.
- Lin AE, Alexander ME, Colan SD, et al. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A 2011; 155A:486-507.
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