Carbonic anhydrase II deficiency: A novel mutation.
Indian Pediatr
;
2009 June; 46(6): 532-534
Article
in English
| IMSEAR
| ID: sea-144065
ABSTRACT
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 12-year-old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our knowledge this is the first case report of mutation proven CA II deficiency from India.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Osteopetrosis
/
Pedigree
/
Acidosis, Renal Tubular
/
Humans
/
Calcinosis
/
Tomography, X-Ray Computed
/
Child
/
Point Mutation
/
Mutation, Missense
/
Brain Diseases, Metabolic, Inborn
Country/Region as subject:
Asia
Language:
English
Journal:
Indian Pediatr
Year:
2009
Type:
Article
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