A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report
Abstract Background Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3)...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMC
2023-08-01
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| Colección: | BMC Pediatrics |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1186/s12887-023-04167-y |
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