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Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome
Small patella syndrome (SPS) is a rare autosomal dominant disorder caused by mutations in TBX4 gene which encodes a transcription factor of FGF10. However, how TBX4 mutations result in SPS is poorly understood. Here, a novel TBX4 mutation c.1241C>T (p.P414L) was identified in a SPS family and ser...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8875086/ https://www.ncbi.nlm.nih.gov/pubmed/35216193 http://dx.doi.org/10.3390/ijms23042075 |