Article
SHP2 sails from physiology to pathology.
European journal of medical genetics - 1 Oct 2015
Tajan Mylène, de Rocca Serra Audrey, Valet Philippe, Edouard Thomas, Yart Armelle
Abstract excerpt
Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein tyrosine phosphatase SHP2 (SH2 domain-containing tyrosine phosphatase 2), have been identified as the causal factor of several developmental diseases (Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML), and metachondromatosis), and malignancies (juvenile myelomonocytic leukemia). SHP2 plays essential...
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