Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
Am J Med Genet
; 59(2): 204-8, 1995 Nov 06.
Article
em En
| MEDLINE
| ID: mdl-8588587
ABSTRACT
We describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no other affected relatives. We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX2 gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Nervo Óptico
/
Refluxo Vesicoureteral
/
Anormalidades Múltiplas
/
Coloboma
/
Rim
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Estados Unidos