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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations – anophthalmia and/or severe microphthalmia – seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2,...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Blackwell Publishing Ltd
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3893155/ https://ncbi.nlm.nih.gov/pubmed/24498598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.2 |
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