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Author

T. Leeb

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Case report Open access Sep 2026

A SINE-like insertion in intron 13 of the ATP7A gene is associated with a mild form of Menkes-like disease in a Cavalier King Charles Spaniel

Although this case appears to represent a mild phenotypic presentation of Menkes-like disease, it raises the possibility that copper disorders aside from copper-associated hepatitis might exist in dogs and allows potential early intervention and modeling for metabolic diseases in humans.

E. Fulton, Cleo Schwarz, V. Jagannathan et al. · 0 citations
Open access Aug 2026

SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa

The spectrum of pathogenic LAMA3 variants associated with canine JEB is expanded and the importance of visual inspection of short‐read sequencing data for the detection and correct interpretation of structurally complex variants such as transposable element insertions is highlighted.

S. Kiener, R. Kaufmann, Ori Brenner et al. · 0 citations

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