Most common gene involved in Noonan syndrome
Correct Answer: PTPN 11
Description: 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
Category:
Pediatrics
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