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Skeletal Dysplasia (SD) is a developmental disorder that results in disproportionate dwarfism.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 33 |
| Mutation | c.673T>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | SD3 |
Informations générales
Skeletal Dysplasia (SD) is a developmental disorder that results in disproportionate dwarfism. This form of SD, Skeletal Dysplasia 3 (SD3), occurs in the Vizsla, and is caused by a recessive mutation to the gene PCYT1A.
Caractéristiques cliniques
Dwarfism in affected puppies becomes apparent around the age of 3 to 5 weeks. Dogs with SD3 are shorter than littermates, with bowed limbs and knobbly joints. Forelimbs are more affected than hind limbs, and they maintain a wide stance with their forelimbs. This dwarfism makes affected adults shorter than the breed standard for Vizslas.
Additional Information
Références
Pubmed ID: 36553621
Year published: 2022
Omia ID: 2606
Omia variant ID: