Carbonic Anhydrase II Deficiency: A Novel Mutation
Nampoothiri S et al. - Carbonic anhydrase II deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12-year-old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation.T [more...]
|
|
|
