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.
· EJIFCC · 0 citations