Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.

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 acro...

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Bibliographic Details

Published in:	European Journal of Pediatrics Vol. 181; no. 10; pp. 3691 - 3701
Main Authors:	Papadopoulos, George, Papadopoulou, Anna, Kosma, Konstantina, Papadimitriou, Anastasios, Papaevangelou, Vassiliki, Kanaka-Gantenbein, Christina, Bountouvi, Evangelia, Kitsiou-Tzeli, Sophia
Format:	Journal Article
Published:	Springer Nature Oct2022
Online Access:	View this record in EBSCOhost