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Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia
To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects and growth delays. We found two sequence variants in SALL4 - c.[...
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| Publicado no: | Ophthalmic Genet |
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| Main Authors: | , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6238016/ https://ncbi.nlm.nih.gov/pubmed/27661448 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2016.1217550 |
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