title: Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification.
abstract: The authors present a case of osteopetrosis due to carbonic anhydrase II deficiency. Clinical, laboratory and radiologic findings are reported. The genetics of osteopetrosis are reviewed.
authors.affiliation: Department of Hematology, Children's University Hospital, Dublin, Ireland. Melanie.Cotter@tsch.ie
authors.forename: Melanie
authors.initials: M
authors.lastname: Cotter
authors.forename: Thomas
authors.initials: T
authors.lastname: Connell
authors.forename: Eric
authors.initials: E
authors.lastname: Colhoun
authors.forename: Owen P
authors.initials: OP
authors.lastname: Smith
authors.forename: Corrina
authors.initials: C
authors.lastname: McMahon
mesh_terms: D000141:Acidosis, Renal Tubular / Q000209:etiology* / Q000235:genetics; D001921:Brain / Q000473:pathology*; D002114:Calcinosis; D024402:Carbonic Anhydrase II / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D010022:Osteopetrosis / Q000209:etiology* / Q000235:genetics
chemical_list: D024402:Carbonic Anhydrase II