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A novel mutation of PAX6 in Chinese patients with new clinical features of Peters’ anomaly
PURPOSE: To identify novel mutation in the PAX6 (paired box gene 6) gene and characterize new clinical features of severe ocular malformation in a Chinese patient with Peters’ anomaly. METHODS: A 10-month-old male infant, who presented with corneal opacity and nystagmus, was referred to our pediatri...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2855731/ https://www.ncbi.nlm.nih.gov/pubmed/20405024 |