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Skeletal Dysplasia (SD) is a developmental disorder that results in disproportionate dwarfism.
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Spezifikationen
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Gene | |
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specimen | Tupfer, EDTA Blut, Heparin Blut, Sperma, Gewebe |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Allgemeine Informationen
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.
Klinische Merkmale
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.
Zusätzliche Information
Verweise
Pubmed ID: 36553621
Omia ID: 2606