Clinical and Molecular genetics of Stickler syndrome.

@article{Snead1999ClinicalAM,
  title={Clinical and Molecular genetics of Stickler syndrome.},
  author={Martin Paul Snead and John R. Yates},
  journal={Journal of medical genetics},
  year={1999},
  volume={36 5},
  pages={353-9}
}
Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a substantial risk of retinal detachment. Less common… CONTINUE READING