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- W2081635903 endingPage "179" @default.
- W2081635903 startingPage "161" @default.
- W2081635903 abstract "Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations." @default.
- W2081635903 created "2016-06-24" @default.
- W2081635903 creator A5019664227 @default.
- W2081635903 creator A5048934823 @default.
- W2081635903 creator A5086328119 @default.
- W2081635903 date "2011-02-01" @default.
- W2081635903 modified "2023-10-02" @default.
- W2081635903 title "Noonan syndrome and clinically related disorders" @default.
- W2081635903 cites W1488372279 @default.
- W2081635903 cites W1519489545 @default.
- W2081635903 cites W1968751779 @default.
- W2081635903 cites W1970694857 @default.
- W2081635903 cites W1972449266 @default.
- W2081635903 cites W1972964891 @default.
- W2081635903 cites W1974990209 @default.
- W2081635903 cites W1983809785 @default.
- W2081635903 cites W1983831457 @default.
- W2081635903 cites W1985299313 @default.
- W2081635903 cites W1986645513 @default.
- W2081635903 cites W1987661200 @default.
- W2081635903 cites W1990609741 @default.
- W2081635903 cites W1990896826 @default.
- W2081635903 cites W1994115179 @default.
- W2081635903 cites W1994773160 @default.
- W2081635903 cites W1995612782 @default.
- W2081635903 cites W1997508007 @default.
- W2081635903 cites W1999306810 @default.
- W2081635903 cites W2001048486 @default.
- W2081635903 cites W2003312419 @default.
- W2081635903 cites W2005508652 @default.
- W2081635903 cites W2006231823 @default.
- W2081635903 cites W2006691415 @default.
- W2081635903 cites W2007899517 @default.
- W2081635903 cites W2008409383 @default.
- W2081635903 cites W2008762441 @default.
- W2081635903 cites W2010926229 @default.
- W2081635903 cites W2012645327 @default.
- W2081635903 cites W2015467663 @default.
- W2081635903 cites W2017510929 @default.
- W2081635903 cites W2023350410 @default.
- W2081635903 cites W2023823280 @default.
- W2081635903 cites W2023987706 @default.
- W2081635903 cites W2027496090 @default.
- W2081635903 cites W2033486597 @default.
- W2081635903 cites W2039750761 @default.
- W2081635903 cites W2043160859 @default.
- W2081635903 cites W2044961658 @default.
- W2081635903 cites W2049992341 @default.
- W2081635903 cites W2054704185 @default.
- W2081635903 cites W2059037016 @default.
- W2081635903 cites W2059110099 @default.
- W2081635903 cites W2061393391 @default.
- W2081635903 cites W2066460139 @default.
- W2081635903 cites W2068804834 @default.
- W2081635903 cites W2069765638 @default.
- W2081635903 cites W2070204715 @default.
- W2081635903 cites W2071208412 @default.
- W2081635903 cites W2074060582 @default.
- W2081635903 cites W2074089133 @default.
- W2081635903 cites W2075301039 @default.
- W2081635903 cites W2077447565 @default.
- W2081635903 cites W2078792788 @default.
- W2081635903 cites W2080549930 @default.
- W2081635903 cites W2082448876 @default.
- W2081635903 cites W2084371858 @default.
- W2081635903 cites W2084440639 @default.
- W2081635903 cites W2088004537 @default.
- W2081635903 cites W2091931718 @default.
- W2081635903 cites W2094548766 @default.
- W2081635903 cites W2097454433 @default.
- W2081635903 cites W2097651100 @default.
- W2081635903 cites W2098174002 @default.
- W2081635903 cites W2103344965 @default.
- W2081635903 cites W2104599144 @default.
- W2081635903 cites W2108100369 @default.
- W2081635903 cites W2108447730 @default.
- W2081635903 cites W2109487895 @default.
- W2081635903 cites W2109719605 @default.
- W2081635903 cites W2112078762 @default.
- W2081635903 cites W2112451232 @default.
- W2081635903 cites W2118518474 @default.
- W2081635903 cites W2121195198 @default.
- W2081635903 cites W2123541095 @default.
- W2081635903 cites W2124089267 @default.
- W2081635903 cites W2124171936 @default.
- W2081635903 cites W2125124519 @default.
- W2081635903 cites W2125223585 @default.
- W2081635903 cites W2129901774 @default.
- W2081635903 cites W2130526419 @default.
- W2081635903 cites W2132298090 @default.
- W2081635903 cites W2133770788 @default.
- W2081635903 cites W2139531608 @default.
- W2081635903 cites W2141073629 @default.
- W2081635903 cites W2143963530 @default.
- W2081635903 cites W2144844081 @default.
- W2081635903 cites W2145466141 @default.
- W2081635903 cites W2146326641 @default.
- W2081635903 cites W2154438447 @default.