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A Novel Heterozygous Mutation in the T-box Protein 4 Gene in an Adult Case of Small Patella Syndrome
INTRODUCTION: Small patella syndrome (SPS) is a rare skeletal dysplasia relating to the T-box protein 4 (TBX4) gene, which regulates the development of lower extremities. Patients typically present with recurrent patellar dislocation (RPD) in childhood or adolescence, leading to a diagnosis of SPS a...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Indian Orthopaedic Research Group
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974686/ https://www.ncbi.nlm.nih.gov/pubmed/29854702 http://dx.doi.org/10.13107/jocr.2250-0685.1012 |