Open AccessA Rare Mutation In Noonan Syndrome
Author(s) -
Vasco Carvalho
Publication year - 2020
Publication title -
neonatology and clinical pediatrics
Language(s) - English
Resource type - Journals
ISSN - 2378-878X
DOI - 10.24966/ncp-878x/100060
Subject(s) - noonan syndrome , ptpn11 , short stature , medicine , incidence (geometry) , mutation , pediatrics , genetics , biology , gene , kras , physics , optics
Noonan Syndrome (NS) is a genetic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. The incidence is estimated to be between 1:1000 and 1:2500 live births. Mutations in PTPN11 (12q24.13) are seen in 50% of cases.
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