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Author

R. Manokaran

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Case report Aug 2026

Infantile Osteopetrosis with a CLCN7 Variant: An Educational Case Highlighting Integrated Diagnosis and Variant Interpretation

This report presents an educational case emphasizing the importance of integrated clinical, radiological, and laboratory evaluation, and highlights the challenges in interpreting variants of uncertain significance in clinical practice.

Shree A. V. Meena, R. Manokaran, Dhaarani Jayaraman et al. · 0 citations

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