Associated Papers
Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.
Pang Q et al.
Metabolic Brain Disease, 2015
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Vivante A et al.
Nephron. Physiology, 2011
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
Lotan D et al.
Pediatric Nephrology (berlin, Germany), 2006
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Shah GN et al.
Human Mutation, 2004
Select a paper to view details