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...

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Detalles Bibliográficos
Autores principales: McElroy, Abigail, Gray‐Edwards, Heather, Coghill, Lyndon M., Lyons, Leslie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
SMALL ANIMAL
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

Internet

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

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