Next-generation sequencing identifies rare variants associated with Noonan syndrome
Next-generation sequencing identifies rare variants associated with Noonan syndrome
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Author / Creator
Chen, Peng-Chieh , 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. and Kucherlapati, Raju
Publisher
United States: National Academy of Sciences
Journal title
Language
English
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Publisher
United States: National Academy of Sciences
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Scope and Contents
Contents
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 unknown. We performed next-generation sequencing on ger...
Alternative Titles
Full title
Next-generation sequencing identifies rare variants associated with Noonan syndrome
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4128129
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4128129
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1324128111
