Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

Gain-of-function variants in some RAS–MAPK pathway genes, including PTPN11 and NRAS, are associated with RASopathies and/or acquired hematological malignancies, most notably juvenile myelomonocytic leukemia (JMML). With rare exceptions, the spectrum of germline variants causing RASopathies does not...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Mason-Suares, Heather, Toledo, Diana, Gekas, Jean, Lafferty, Katherine A, Meeks, Naomi, Pacheco, M Cristina, Sharpe, David, Mullen, Thomas E, Lebo, Matthew S
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5386422/
https://ncbi.nlm.nih.gov/pubmed/28098151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.202
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