Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

Схожие документы

• Novel SOX2 Mutations and Genotype-Phenotype Correlation in Anophthalmia and Microphthalmia
  по: Schneider, Adele, et al.
  Опубликовано: (2009)
• OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
  по: Schilter, Kala, et al.
  Опубликовано: (2011)
• FOXE3 plays a significant role in autosomal recessive microphthalmia
  по: Reis, Linda M., et al.
  Опубликовано: (2010)
• Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
  по: Reis, Linda M, et al.
  Опубликовано: (2020)
• Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia
  по: Zhou, Jie, et al.
  Опубликовано: (2008)