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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal‐Coloboma syndrome

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Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

H. Cunliffe, K. Devriendt, M. Masuno, 1997, American journal of human genetics.