Genetic testing for lymphedema in RASopathies

Genetic testing for lymphedema in RASopathies

Variants affecting the function of genes in the RAS–mitogen-activated protein kinase (MAPK) signal transduction pathway have been identified as responsible for a group of developmental syndromes known as RASopathies. Noonan (NS) and cardiofaciocutaneous syndromes (CFC) represent the most frequent an...

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Bibliographic Details
Main Authors: Paolacci Stefano, Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2018-09-01
Series:The EuroBiotech Journal
Subjects:
primary lymphatic malformations
noonan syndrome
noonan-like syndrome
rasopathies
ebtna utility gene test
Online Access:https://doi.org/10.2478/ebtj-2018-0025

Internet

https://doi.org/10.2478/ebtj-2018-0025

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