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Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare congenital disorder classically characterized by macrocephaly in combination with intestinal hamartomatous polyposis, vascular malformations, lipomas, and genital lentiginosis. Germline PTEN mutations have been reported in up to 60% of BRRS patients...
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| Publicado no: | NPJ Genom Med |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5735137/ https://ncbi.nlm.nih.gov/pubmed/29263846 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-017-0039-y |
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