1 MCQs in Pediatrics for NEET PG
A 3-month-old male infant born to non-consanguineous parents presents with progressive jaundice, hepatomegaly, and failure to thrive. On examination, the child has a characteristic **triangular face (marked A)** with a broad forehead, deep-set eyes, and pointed chin. A systolic murmur is heard on cardiac auscultation. Imaging reveals butterfly vertebrae and paucity of intrahepatic bile ducts on ultrasound. Which of the following genetic mutations is MOST likely responsible for this clinical presentation?
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