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. , ...Daha Fazla

INDIAN JOURNAL OF PEDIATRICS, cilt.83, ss.517-521, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 83 Konu: 6
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1007/s12098-015-1998-6
  • Dergi Adı: INDIAN JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.517-521

Özet

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