Browsing Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed by Subject "germline mutation"
Now showing items 1-1 of 1
-
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
(Nature Publishing Group, 2016)Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused ...