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 unkno...

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Hlavní autoři: Chen, Peng-Chieh, Yin, Jiani, Yu, Hui-Wen, Yuan, Tao, Fernandez, 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
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2014
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4128129/
https://ncbi.nlm.nih.gov/pubmed/25049390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1324128111
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