Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/s41525-017-0039-y.pdf
Reference57 articles.
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2. Peiretti, V. et al. Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. J. Clin. Res. Pediatr. Endocrinol. 5, 261–265 (2013).
3. DiLiberti, J. H., D’Agostino, A. N., Ruvalcaba, R. H. & Schimschock, J. R. A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome. Am. J. Med. Genet. 18, 163–167 (1984).
4. Fryburg, J. S., Pelegano, J. P., Bennett, M. J. & Bebin, E. M. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. Am. J. Med. Genet. 52, 97–102 (1994).
5. Zbuk, K. M. & Eng, C. Cancer phenomics: RET and PTEN as illustrative models. Nat. Rev. Cancer 7, 35–45 (2007).
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