Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

@article{Awadalla2014MutationIT,
  title={Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.},
  author={Mona S. Awadalla and Kathryn P Burdon and Emmanuelle Souzeau and John Landers and Alex W. Hewitt and Shiwani Sharma and Jamie Evan Craig},
  journal={JAMA ophthalmology},
  year={2014},
  volume={132 8},
  pages={970-7}
}
IMPORTANCE Nanophthalmos is a congenital disorder characterized by small eyes, with the main complications being severe hyperopia and angle-closure glaucoma. OBJECTIVE To perform a clinical and genetic investigation of a large white family with autosomal dominant nanophthalmos. DESIGN, SETTING, AND PARTICIPANTS Detailed clinical evaluation and a genome-wide linkage scan was conducted in the family NNO-SA1. Linkage was evaluated with a 10K single-nucleotide polymorphism array, followed by… CONTINUE READING
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