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PTPN11-Associated Mutations in the Heart: Has LEOPARD changed its RASpots?

In this review, we focus on elucidating the cardiac function of germline mutations in the PTPN11 gene, encoding the SH2 domain-containing protein tyrosine phosphatase SHP2. PTPN11 mutations cause LEOPARD Syndrome (LS) and Noonan Syndrome (NS), two disorders that are part of a newly classified family...

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Bibliographic Details
Main Authors: Lauriol, Jessica, Kontaridis, Maria I.
Format: Artigo
Language:Inglês
Published: 2011
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3372917/
https://ncbi.nlm.nih.gov/pubmed/22681964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tcm.2012.03.006
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