Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to aCLCN7mutation

• Sian E. Piret, Caroline M. Gorvin, Anne Trinh, John Taylor, Stefano Lise, Jenny C. Taylor, Peter R. Ebeling, Rajesh V. Thakker

• American Journal of Medical Genetics Part A, August 2016, Wiley
• DOI: 10.1002/ajmg.a.37755