Nueva variante patogénica en el gen SOX9 relacionada con la displasia campomélica
Campomelic dysplasia is a skeletal dysplasia, characterized by the Pierre Robin sequence with cleft palate, associated with bowing and shortening of the long bones. This research aimed to report a variant with a missense change in the SOX9 gene that was previously described as uncertain meaning, in...
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| Autores principales: | , , , |
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| Formato: | Artículo |
| Lenguaje: | español |
| Publicado: |
2024
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| Materias: | |
| Acceso en línea: | https://dialnet.unirioja.es/servlet/oaiart?codigo=9781692 |
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