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J Med Genet 2005;42:313
  • Echoes

Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene

  1. P K F Addison,
  2. V Berry,
  3. A C W Ionides,
  4. P J Francis,
  5. S S Bhattacharya,
  6. A T Moore

      Background: The authors recently identified three large genetically unrelated families with an identical 17 base pair duplication mutation in exon 4 of the PITX3 gene. Here, they report the detailed clinical phenotype.

      Methods: Affected and unaffected individuals …

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