Russell Silver syndrome (RSS)
Evidence-based neurology checklist on russell silver syndrome (rss): Genetics This is an imprinting disorder Most cases are sporadic The transmission is usually autosomal dominant in familial cases Genetic mutations Neurological features Facial features Skeletal features Urogenital features…
Genetics
- This is an imprinting disorder
- Most cases are sporadic
- The transmission is usually autosomal dominant in familial cases
Genetic mutations
Neurological features
Facial features
Skeletal features
Urogenital features
Ophthalmological features
Systemic features
References
- Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet 2008; 45:193-199.
- Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet 2010; 154C:355-364.
- Eggermann T, Begemann M, Binder G, Spengler S. Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis 2010; 5:19.
- Sheridan MB, Bytyci Telegrafi A, Stinnett V, et al. Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. Clin Genet 2013; 84:368-372.
- Augustine EF, Blackburn J, Pellegrino JE, Miller R, Mink JW. Myoclonus-dystonia syndrome associated with Russell Silver syndrome. Mov Disord 2013; 28:841-842.
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