Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions

@article{Leach2018ComparativeAO,
  title={Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions},
  author={Natalia Tszine Leach and Divya Wilson Mathews and Lynne S Rosenblum and Zheng-Yi Zhou and Hua-zhong Zhu and Ruth Alice Heim},
  journal={Genetics in Medicine},
  year={2018},
  volume={21},
  pages={417-425}
}
PurposeTo compare the pattern of gene-specific involvement and the spectrum of variants observed in prenatal and postnatal (mean ± SD, 8.9 ± 9.4 years) cohorts tested for Noonan syndrome and related conditions.MethodsOutcomes of sequencing panel testing were compared between prenatal (n = 845) and postnatal (n = 409) cohorts.ResultsPTPN11 and SOS1 harbored the majority of observed variants in both prenatal and postnatal cohorts, and BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1, and SHOC2 had… CONTINUE READING
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