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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Joyce, Sarah, Gordon, Kristiana, Brice, Glen, Ostergaard, Pia, Nagaraja, Rani, Short, John, Moore, Sandra, Mortimer, Peter, Mansour, Sahar
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
Gaiak:
Article
Sarrera elektronikoa: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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