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Renal-Coloboma Syndrome in a Brazilian Family
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The incidence of renal-coloboma syndrome, a rare autosomal disorder
that displays a large variability in expression, is unknown. In 1995, mutations
in the PAX2 gene were identified as the cause of
renal-coloboma syndrome. Since then, 19 cases with PAX2 mutations have been described.1
We recently studied a Brazilian family with renal-coloboma syndrome affecting
9 individuals from 3 generations.2 To the
best of our knowledge, this family represents the largest pedigree (Figure 1) of renal-coloboma syndrome described
to date.
Figure appears in full text version.
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Figure 1. Schematic pedigree of a Brazilian
family with renal-coloboma syndrome. Three generations are shown (I, II, and
III). Filled symbols indicate affected individuals; open symbols, unaffected
individuals; circles, females; squares, males; and arrow, proband.
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Our investigation began with a boy (patient III-17) who was born prematurely
for no apparent reason and was diagnosed as having renal failure early in
life. He received peritoneal dialysis 4 times a week and . . . [Full Text of this Article]
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
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Papillorenal Syndrome in a Brazilian Family
Parsa et al.
Arch Ophthalmol 2002;120:1772-1773.
FULL TEXT
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