Most common gene involved in Noonan syndrome
NOONAN SYNDROME: - Autosomal dominant, Normal karyotype - MC gene involved --> PTPN 11 - Seen in both boys & girls --> FEILE - FEATURES: Sho stature webbed neck Anti-mongoloid slant eyes (Opposite of Down syndrome) Cubitus valgus Clinodactyly, Cryptorchidism cardiac anomalies: Supra valvular Pulmonary Stenosis -->, HOCM, ASD Presence of Intellectual disability
PTCN 11
PTPN 11
PTPN 22
PTCN 22
Other hea diseases in children