Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

• Autors principals: Jeevana Praharsha Athota (Autor), Meenakshi Bhat (Autor), Sheela Nampoothiri (Autor), Kalpana Gowrishankar (Autor), Sanjeeva Ghanti Narayanachar (Autor), Vinuth Puttamallesh (Autor), Mohammed Oomer Farooque (Autor), Swathi Shetty (Autor)
• Format: Llibre
• Publicat: BMC, 2020-03-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract Background Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic va...