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Article

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.

Journal of veterinary internal medicine - 1 Jan 2000

McElroy Abigail, Gray-Edwards Heather, Coghill Lyndon M, Lyons Leslie A

Abstract excerpt

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 genetic cause of a suspected form of EDS in a cat. ANIMALS: A 14-week-old male domestic medium hair cat was presented...

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Identifiers

PMID: 37594181
DOI: 10.1111/jvim.16805
PMCID: PMC10473008

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