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Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4–30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic l...
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| Publicado no: | Clin Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8259391/ https://ncbi.nlm.nih.gov/pubmed/33314030 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13897 |
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