Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations


Atik T. , Aykut A. , HAZAN F., Onay H., Goksen D. , Darcan Ş. , ...More

INDIAN JOURNAL OF PEDIATRICS, vol.83, no.6, pp.517-521, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 83 Issue: 6
  • Publication Date: 2016
  • Doi Number: 10.1007/s12098-015-1998-6
  • Title of Journal : INDIAN JOURNAL OF PEDIATRICS
  • Page Numbers: pp.517-521
  • Keywords: Noonan syndrome, Rasopathy, PTPN11, Pulmonary stenosis, Short stature, CLINICAL-FEATURES, GENE

Abstract

Objectives To evaluate the spectrum of PTPN11 gene mutations in Noonan syndrome patients and to study the genotype-phenotype associations.