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Dental-Skeletal-Retinal Anomaly (DSRA) is a developmental disorder found in the Cane Corso, which causes brittle teeth, disproportionate growth and vision loss.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 38 |
| Mutation | c.3822+3_3822+4del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | DSRA |
Informations générales
Dental-Skeletal-Retinal Anomaly (DSRA) is a developmental disorder found in the Cane Corso, which causes brittle teeth, disproportionate growth and vision loss. The disorder is caused by a recessive mutation to the gene MIA3.
Caractéristiques cliniques
Affected puppies develop distinctively translucent, brown-discoloured teeth. They also grow shorter than their littermates, with disproportionately short and crooked forelegs. The disease also results in progressive retinal atrophy (PRA): degradation of the retinas resulting in a gradual loss of vision.
Additional Information
Références
Pubmed ID: 34680893
Year published: 2021
Omia ID: 2465
Omia variant ID: