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Tietz/Waardenburg Type 2A Syndrome Associated with Posterior Microphthalmos in Two Unrelated Patients with Novel MITF Gene Mutations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3294, doi. 10.1002/ajmg.a.37937
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- Article
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 387, doi. 10.1038/ng.3226
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- Publication type:
- Article
Retinal phenotypic characterization of patients with ABCA4 retinopathy due to the homozygous p.Ala1773Val mutation.
- Published in:
- Molecular Vision, 2018, v. 24, p. 105
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- Publication type:
- Article