1 MCQs in Pediatrics for NEET PG
A 2-month-old boy born to non-consanguineous parents presents with bilateral choanal atresia requiring emergency airway management. On examination, he has bilateral iris colobomas, cup-shaped ears with ossicular malformations, and a ventricular septal defect on echocardiography. Genetic testing reveals a heterozygous loss-of-function mutation in the gene located at the region marked **A** in the diagram. Which of the following best describes the pathogenic mechanism of this disorder?
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