Noonan Syndrome PTPN11 RAS-MAPK Pathway

1 MCQs in Pediatrics for NEET PG

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A 4-year-old boy presents with short stature (height <3rd percentile), characteristic facial features including hypertelorism and downslanting palpebral fissures, webbed neck, and a systolic ejection murmur. Echocardiography reveals dysplastic pulmonary valve stenosis. Genetic testing identifies a gain-of-function mutation at the locus marked **A** (12q24.13). Which of the following best describes the molecular consequence of this mutation in Noonan syndrome?

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