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- W2945367316 abstract "Abstract Noonan syndrome is a genetic multisystemic disorder with a prevalence of 1 in 1000–2500 newborns. This condition is characterized by dysmorphic features, developmental delay, short stature, congenital heart disease, lymphatic malformations, genitourinary anomalies, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with a role in the RAS/MAPK pathway. Medical management guidelines have been developed for this condition and molecular genetic testing is available diagnostically and may provide further aid in long medical management and prognosis (Roberts et al. [5] )." @default.
- W2945367316 created "2019-05-29" @default.
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- W2945367316 date "2019-01-01" @default.
- W2945367316 modified "2023-09-25" @default.
- W2945367316 title "Noonan Syndrome: Phenotypic Variations and Molecular Genetics" @default.
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- W2945367316 doi "https://doi.org/10.1016/b978-0-12-815348-2.00010-4" @default.
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