1 MCQs in Pediatrics for NEET PG
A 4-year-old girl presents with genu varum, short stature, and delayed walking. Laboratory investigations reveal low serum phosphate, normal serum calcium, elevated alkaline phosphatase, and inappropriately normal 1,25-(OH)₂ vitamin D levels. Urinalysis shows significant phosphaturia. Her father had similar bowed legs in childhood and transmitted the condition to all his daughters but none of his sons. The inheritance pattern shown in the pedigree (marked **B**) is consistent with X-linked dominant transmission. Which of the following best explains the underlying molecular defect in this condition?
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