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Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome
We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We ad...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363719/ https://www.ncbi.nlm.nih.gov/pubmed/28344932 http://dx.doi.org/10.5496/wjmg.v6.i2.17 |