Article
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
European journal of pediatrics - 1 Oct 2022
Papadopoulos George, Papadopoulou Anna, Kosma Konstantina, Papadimitriou Anastasios, Papaevangelou Vassiliki, Kanaka-Gantenbein Christina, Bountouvi Evangelia, Kitsiou-Tzeli Sophia
Abstract excerpt
Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. It belongs to a wider group of pathologies, known as Rasopathies, due to the implication of genes encoding components of the Ras/MAPK signalling pathway. Recording the genetic alterations across populations helps assessing specific features to specific genes which is essential for better disease's...
Topics
- Greece
- Humans
- Intracellular Signaling Peptides and Proteins
- Mutation
- Noonan Syndrome
- Phenotype
- Protein Tyrosine Phosphatase, Non-Receptor Type 11
- Proto-Oncogene Proteins B-raf
- Proto-Oncogene Proteins p21(ras)