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Article

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

BMC medical genetics - 12 Mar 2020

Athota Jeevana Praharsha, Bhat Meenakshi, Nampoothiri Sheela, Gowrishankar Kalpana, Narayanachar Sanjeeva Ghanti, Puttamallesh Vinuth, Farooque Mohammed Oomer, Shetty Swathi

Abstract excerpt

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 variants in NS-affected patients. Therefore, clinically diagnosed NS individuals are initially tested for pathogenic variants...

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Identifiers

PMID: 32164556
DOI: 10.1186/s12881-020-0986-5
PMCID: PMC7068896

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