Bannayan-Riley-Ruvalcaba syndrome (BRRS): genetics and imaging
Evidence-based neurology checklist on bannayan-riley-ruvalcaba syndrome (brrs): genetics and imaging: Genetics This is caused by mutations in the PTEN gene on chromosome 10q The transmission is autosomal dominant PTEN is a tumour suppressor gene BRRS is allelic with Cowden syndrome Magnetic…
Genetics
- This is caused by mutations in the PTEN gene on chromosome 10q
- The transmission is autosomal dominant
- PTEN is a tumour suppressor gene
- BRRS is allelic with Cowden syndrome
Magnetic resonance imaging (MRI) brain: features
References
- Ozsu E, Sen A, Ceylaner S. A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty. J Pediatr Endocrinol Metab 2017 doi: 10.1515/jpem-2017-0250. (Epub ahead of print).
- Piccione M, Fragapane T, Antona V, Giachino D, Cupido F, Corsello G. PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. Am J Med Genet A 2013; 161A:2902-2908.
- Peiretti V, Mussa A, Feyles F, et al. Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. J Clin Res Pediatr Endocrinol 2013; 5:261-265.
- Perriard J, Saurat JH, Harms M. An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. J Am Acad Dermatol 2000; 42:348-350.
- Bhargava R, Au Yong KJ, Leonard N. Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients. Am J Neuroradiol 2014; 35:402-406.
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