The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …

CA II is one of seven human carbonic anhydrase (CA) isozymes and is expressed in the
cytoplasm of some cells of virtually every human organ. Deficiency of CA II results in a …

Carbonic anhydrase (CA) II deficiency is characterized by osteopetrosis, renal tubular
acidosis, cerebral calcification, and usually severe mental retardation. We describe an …

Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include
osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of …

Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder,
characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A …

Carbonic anhydrase (CA) isoenzyme II deficiency—formerly called the syndrome of
osteopetrosis with renal tubular acidosis and cerebral calcification—is an autosomal …

To date, three different structural gene mutations have been identified in patients with
carbonic anhydrase II deficiency (osteopetrosis with renal tubular acidosis and cerebral …

A splice junction mutation at the exon 2–intron 2 boundary of the carbonic anhydrase II (CA
II) gene was previously shown to be the unique mutation underlying the CA II deficiency …

Carbonic anhydrase II (CA II) deficiency in man is an autosomal recessive disorder manifest
by osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include …

A panel of 28 mouse-human somatic cell hybrids of known karyotype was screened for the
presence of the human carbonic anhydrase II (CA II) gene, which encodes one of the three …