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Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome
PURPOSE: The aims of this study were to examine novel mutations in PITX2 and FOXC1 in Chinese patients with anterior segment dysgenesis (ASD) and to compare the clinical presentations of these mutations with previously reported associated phenotypes. METHODS: Twenty-six unrelated patients with diffe...
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| Vydáno v: | J Ophthalmol |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hindawi
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6636469/ https://ncbi.nlm.nih.gov/pubmed/31341655 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/5642126 |
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