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Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

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Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP)
Keywords
  • Translocation
  • Array Comparative Genomic Hybridization
  • Copy Number Variation
  • Aniridia
  • Submucous Cleft Palate
  • Cardiac Defects
  • Pax6 Gene
  • Familial Aniridia
  • Eye Anomalies
  • Receptor Gene
  • Human Genome
  • Copy Number
  • Expression
  • Overgrowth
  • Deletion
  • Growth
  • Genetics & Heredity
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