The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS–MAP kinase) pathway. The conditions overlap and...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Joyce, Sarah, Gordon, Kristiana, Brice, Glen, Ostergaard, Pia, Nagaraja, Rani, Short, John, Moore, Sandra, Mortimer, Peter, Mansour, Sahar
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4930084/
https://ncbi.nlm.nih.gov/pubmed/26242988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.175
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