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Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features
Variants in the PAX6 gene have been associated with ophthalmologic, neurologic, and pancreatic differences. We report on a proband, mother, and affected brother who presented with congenital cataracts and glaucoma at a young age. Nonocular findings are also reported among these family members. After...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744493/ https://www.ncbi.nlm.nih.gov/pubmed/34893493 http://dx.doi.org/10.1101/mcs.a006149 |