A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

  • Clin Genet. 2015 Feb;87(2):192-5. doi: 10.1111/cge.12374.
K O Yariz  1 ,  Y B Sakalar ,  X Jin ,  J Hertz ,  E F Sener ,  H Akay ,  M N Özbek ,  A Farooq ,  J Goldberg ,  M Tekin
Affiliations
  • 1. Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
PMID: 24702266 DOI: 10.1111/cge.12374