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

… to the phenotype. Alternatively, environmental factors or genetic background could influence
the phenotype. … brain abnormalities in order to generate a genotype–phenotype correlation. …

Most children with carbonic anhydrase VA (CA-VA) deficiency reported to date have presented
between day 2 of life and early childhood (up to age 20 months) with hyperammonemic …

… Carbonic anhydrase 2 (CA2) enzyme deficiency caused by CA2 gene mutations is an … This
study expands the understanding of genotype-protein phenotype correlations underlying CA2 …

… consanguineous families with carbonic anhydrase type II … always be present in carbonic
anhydrase type II deficiency … However, the overall phenotype of the disorder in this group …

… for osteopetrosis was a carbonic anhydrase II (CAII) deficiency… mice do not have a phenotype
of severe osteopetrosis, the … if the mice display a skeletal phenotype. In this present study, …

… This report expands the neurological and radiological phenotype associated with CA8 …
GeneChip Human Mapping 250K Array StyI Assay was used for genotyping according to the …

… Pedigree and genotype analysis of a Saudi family with carbonic anhydrase deficiency.
Squares indicate male family members, circles female family members; solid symbols indicate …

… Results of these quantitations indicated a relationship between the CA I phenotype of an …
to their assumed CA I genotypes, rather than to their CA I phenotypes. This has been done …

… the phenotype is due to a homozygous mutation in CA12, encoding carbonic anhydrase XII.
… of the extended family, then genotyping with additional microsatellite markers derived from …