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Next-generation sequencing identifies rare variants associated with Noonan syndrome

Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormalities. Known causative genes account for 70-80% of clinically diagnosed NS patients, but the genetic basis for the remaining 20—30% of cases is... Full description

1st Person: Chen, Peng-Chieh
Additional Persons: Yin, Jiani; Yu, Hui-Wen; Yuan, Tao; Fernande, Minerva; Yung, Christina K.; Trinh, Quang M.; Peltekova, Vanya D.; Reid, Jeffrey G.; Tworog-Dube, Erica; Morgan, Margaret B.; Muzny, Donna M.; Stein, Lincoln; McPherson, John D.; Roberts, Amy E.; Gibbs, Richard A.; Neel, Benjamin G.; Kucherlapati, Raju
Source: in Proceedings of the National Academy of Sciences of the United States of America Vol. 111, No. 31 (2014), p. 11473-11478
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Type of Publication: Article
Language: English
Published: 2014
Online: Volltext
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