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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Detalles Bibliográficos
Autores principales: Yehia, Lamis, Ni, Ying, Eng, Charis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735137/
https://www.ncbi.nlm.nih.gov/pubmed/29263846
http://dx.doi.org/10.1038/s41525-017-0039-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735137/
https://www.ncbi.nlm.nih.gov/pubmed/29263846
http://dx.doi.org/10.1038/s41525-017-0039-y

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