RASopathies are a group of disorders characterized by mutations in the RAS-MAPK
pathway. RAS-MAP signaling plays a critical role in cell differentiation, proliferation, and …

Background Noonan syndrome (NS) is a genetic multisystem disorder characterised by
variable clinical manifestations including dysmorphic facial features, short stature …

BAZ1B is a ubiquitously expressed nuclear protein with roles in chromatin remodeling, DNA
replication and repair, and transcription. Reduced BAZ1B expression disrupts neuronal and …

Noonan syndrome (NS) is a common autosomal dominant/recessive disorder. No large‐
scale study has been conducted on NS in China, which is the most populous country in the …

Introduction: Familial dilated cardiomyopathy (DCM) is clinically variable and has been
associated with mutations in more than 50 genes. Rapid improvements in DNA sequencing …

RIT1 belongs to the RAS family of small GTPases. Germline and somatic RIT1 mutations
have been identified in Noonan syndrome (NS) and cancer, respectively. By using …

Background Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents
with unique craniofacial dysmorphology, congenital heart disease, dermatologic …

Genodermatoses are a complex and heterogeneous group of genetic skin disorders
characterized by variable expression and clinical and genetic heterogeneity, rendering their …

Noonan syndrome (NS) is an autosomal-dominant disorder with variable expressivity and
locus heterogeneity. Despite several RAS pathway genes were implicated in NS, 20–30% of …

Background Noonan syndrome (NS), a genetically heterogeneous disorder, presents with
hypertelorism, ptosis, dysplastic pulmonary valve stenosis, hypertrophic cardiomyopathy …