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

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 P...

Source: BMC Medical Genetics - March 12, 2020 Category: Genetics & Stem Cells Authors: Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque and Swathi Shetty Tags: Research article Source Type: research