Renal-coloboma syndrome in a brazilian family [3]

Archives of Ophthalmology

Volumn 119, Issue 10, 2001, Pages 1563-1565

  Gus, P I ^a   De Souza, C F M ^a   Eccles, M ^a   Giugliani, R ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AUTOSOMAL DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILIAL INCIDENCE; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; KIDNEY FAILURE; LETTER; MALE; NEWBORN; OPHTHALMOSCOPY; OPTIC NERVE COLOBOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME;

ADOLESCENT; ADULT; AGED; BRAZIL; CHILD; CHILD, PRESCHOOL; COLOBOMA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; KIDNEY; KIDNEY FAILURE; MALE; OPTIC NERVE; PAX2 TRANSCRIPTION FACTOR; PEDIGREE; PERITONEAL DIALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0034798190     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (4)

1. Renal-coloboma syndrome: A multi-system developmental disorder caused by PAX2 mutations
2. Primary renal hypoplasia in humans and mice with PAX2 mutations: Evidence of increased apoptosis in fetal kidneys of Pax2 (1Neu) +/- mutant mice
3. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
4. The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renalcoloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney