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Carbonic anhydrase II deficiency: phenotype, genotype and marrow transplantation

Publisher
Springer-Verlag
Year
2001
Tongue
English
Weight
255 KB
Volume
170
Category
Article
ISSN
1863-4362

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๐Ÿ“œ SIMILAR VOLUMES

Carbonic anhydrase II deficiency syndrom
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
โœ Gul N. Shah; Giuseppe Bonapace; Peiyi Y. Hu; Pietro Strisciuglio; William S. Sly ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 319 KB

The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include developmental delay, short stature, cognitive defects, and a history of multiple fractures by adolescence.