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Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation
PURPOSE: To describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents. METHODS: The patient and his healthy non-consanguineous parents underwent detailed ophthalmic evaluations including electro-oculography (EOG), spectral-domain...
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| 發表在: | Doc Ophthalmol |
|---|---|
| Main Authors: | , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer Berlin Heidelberg
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4880638/ https://ncbi.nlm.nih.gov/pubmed/27071392 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10633-016-9540-3 |
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