Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome
Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome
About this item
Full title
Author / Creator
Yehia, Lamis , Ni, Ying and Eng, Charis
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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. The remaining cases are of unknown genetic...
Alternative Titles
Full title
Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5735137
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5735137
Other Identifiers
ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-017-0039-y
