Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

@article{GonzalezRodriguez2010MutationalSO,
  title={Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.},
  author={Johanna Gonzalez-Rodriguez and Erika L Pelcastre and Jos{\'e} Luis Tovilla-Canales and Jos{\'e} El{\'i}as Garc{\'i}a-Ortiz and Monica Amato-Almanza and Cristina Villanueva-Mendoza and Zoraida Espinosa-Mattar and Juan Carlos Zenteno},
  journal={The British journal of ophthalmology},
  year={2010},
  volume={94 8},
  pages={1100-4}
}
BACKGROUND/AIMS Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can arise from prenatal exposure to teratogens, mutations in well-defined genes originate potentially heritable forms of MAC. Mutations in genes such as CHX10, GDF6, RAX, SOX2 and OTX2, among others, have been recognised in dominant or recessive MAC. SOX2 and OTX2 are the two most commonly mutated genes in… CONTINUE READING

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