Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-03-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-020-0986-5 |