Carbonic anhydrase II deficiency: A novel mutation.
Indian Pediatr
;
2009 June; 46(6): 532-534
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Osteopetrosis
/
Linaje
/
Acidosis Tubular Renal
/
Humanos
/
Calcinosis
/
Tomografía Computarizada por Rayos X
/
Niño
/
Mutación Puntual
/
Mutación Missense
/
Encefalopatías Metabólicas Innatas
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2009
Tipo del documento:
Artículo
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