- Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Sly, W.S., Whyte, M.P., Sundaram, V., Tashian, R.E., Hewett-Emmett, D., Guibaud, P., Vainsel, M., Baluarte, H.J., Gruskin, A., Al-Mosawi, M. N. Engl. J. Med. (1985)