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

• Main Authors: Jeevana Praharsha Athota (Author), Meenakshi Bhat (Author), Sheela Nampoothiri (Author), Kalpana Gowrishankar (Author), Sanjeeva Ghanti Narayanachar (Author), Vinuth Puttamallesh (Author), Mohammed Oomer Farooque (Author), Swathi Shetty (Author)
• Format: Book
• Published: BMC, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...