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Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome
Oculo-auriculo-vertebral syndrome (OAVS) is a clinically heterogeneous disorder, with both genetic and environmental contributors. Multiple genes have been associated with OAVS and common molecular pathways, such as retinoic acid and the PAX-SIX-EYA-DACH (PSED) network, are being implicated in the d...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553880/ https://www.ncbi.nlm.nih.gov/pubmed/35879406 http://dx.doi.org/10.1038/s41431-022-01154-2 |