1 MCQs in Pediatrics for NEET PG
A 6-year-old boy presents with multiple café-au-lait macules (>5 mm), axillary freckling, and two cutaneous neurofibromas. His father is unaffected. Genetic testing confirms a heterozygous pathogenic variant in the NF1 gene on chromosome 17q11.2, marked as **B** in the pedigree diagram. Which of the following best describes the inheritance pattern and molecular consequence of this mutation?
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