Intrafamilial variability of XYLT2-related spondyloocular syndrome


Guleray N. , ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , Boduroglu K. , ALİKAŞİFOĞLU M.

European Journal of Medical Genetics, vol.62, no.11, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 11
  • Publication Date: 2019
  • Doi Number: 10.1016/j.ejmg.2018.11.019
  • Title of Journal : European Journal of Medical Genetics
  • Keywords: Spondyloocular syndrome, XYLT2, Cataract, Retinal detachment, Osteoporosis, OCULAR SYNDROME, MUTATIONS, OSTEOPOROSIS, GENE