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A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report
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) were id...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463978/ https://www.ncbi.nlm.nih.gov/pubmed/37626311 http://dx.doi.org/10.1186/s12887-023-04167-y |