Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations
Makaleler > Tam Makale · 2016
Yazarlar: Tahir ATİK, Ayça AYKUT, Filiz HAZAN, Huseyin Onay, Ruhsar Damla GÖKŞEN, Şükran DARCAN, Ajlan Tukun, Feriştah Ferda ÖZKINAY
The Indian Journal of Pediatrics, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2016, cilt 83, ss 517-521
DOI: 10.1007/s12098-015-1998-6
Özet
Objectives To evaluate the spectrum of PTPN11 gene mutations in Noonan syndrome patients and to study the genotype-phenotype associations.