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

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...

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Bibliographic Details
Main Authors: Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Medical Genetics
Subjects:
Noonan syndrome
PTPN11
Mutational analysis
Congenital heart defects
SHP-2
RASopathy
Online Access:http://link.springer.com/article/10.1186/s12881-020-0986-5

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http://link.springer.com/article/10.1186/s12881-020-0986-5

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