Article
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
European journal of pediatrics - 27 Dec 2024
Yılmaz Uzman Ceren, Gürsoy Semra, Özkan Behzat, Vuran Gamze, Ayyıldız Emecen Durdugül, Köprülü Özge, Bilen Mertkan Mustafa, Hazan Filiz
Abstract excerpt
The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe...
Topics
- Humans
- Male
- Female
- Noonan Syndrome
- Phenotype
- Child, Preschool
- Child
- Costello Syndrome
- Ectodermal Dysplasia
- Infant
- Neurofibromatosis 1