OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

Lignende værker

• Novel SOX2 Mutations and Genotype-Phenotype Correlation in Anophthalmia and Microphthalmia
  af: Schneider, Adele, et al.
  Udgivet: (2009)
• Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes
  af: Reis, Linda M., et al.
  Udgivet: (2010)
• FOXE3 plays a significant role in autosomal recessive microphthalmia
  af: Reis, Linda M., et al.
  Udgivet: (2010)
• Whole-genome copy number variation analysis in anophthalmia and microphthalmia
  af: Schilter, Kala F., et al.
  Udgivet: (2013)
• Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
  af: Deml, Brett, et al.
  Udgivet: (2016)