Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders
named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK …

Fetuses with RASopathies can have a wide variety of anomalies including increased nuchal
translucency, hydrops fetalis, and structural anomalies (typically cardiac and renal). There …

Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a
transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated …

Noonan syndrome and related disorders are a group of well‐known genetic conditions
caused by dysregulation of the Ras/mitogen‐activated protein kinase (RAS/MAPK) pathway …

Background: Craniosynostosis (CS) represents a highly heterogeneous genetic condition
whose genetic background has not been yet revealed. The abnormality occurs either in …

Noonan syndrome is a so‐called “RASopathy,” that is characterized by short stature,
distinctive facial features, congenital heart defects, and developmental delay. Of individuals …

Craniosynostosis is caused by abnormalities of multiple signaling pathways, including
excessive RAS signaling. Recently, a truncating variant in ETS2 repressor factor (ERF), a …

Objective Craniosynostosis (CS) is the premature fusion of the cranial sutures, occurring
either in isolated or syndromic form. Syndromic CS, which was described in over 180 …

Abstract Neurofibromatosis type 1 (NF1), Noonan (NS), Costello (CS), and cardio-facio-
cutaneous syndrome (CFC) belong to the RASopathies, a group of phenotypically …

Cranial sutures are growth and stress diffusion sites that connect the bones protecting the
brain. The closure of cranial suture is a key feature of mammalian late development and …