Loading...
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...
Saved in:
| Published in: | NPJ Genom Med |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Nature Publishing Group UK
2017
|
| Subjects: | |
| Online Access: | 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 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|