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Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers‐Danlos syndrome
BACKGROUND: Ehlers‐Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders occurring in both human and veterinary patients. The genetics of these disorders are poorly described in small animal patients. HYPOTHESIS/OBJECTIVES: Define the clinical manifestations and g...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10473008/ https://www.ncbi.nlm.nih.gov/pubmed/37594181 http://dx.doi.org/10.1111/jvim.16805 |