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H876

Disproportionate Dwarfism is a developmental disorder of the skeleton, which causes stunted growth and changes the body’s proportions.

10 Arbeidsdager

Spesifikasjoner

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

Generell informasjon

Disproportionate Dwarfism is a developmental disorder of the skeleton, which causes stunted growth and changes the body’s proportions. The variant of dwarfism analysed in this test, found in the Dogo Argentino, is caused by a recessive mutation to the gene PRKG2.

Kliniske egenskaper

Affected puppies develop skeletal deformities that become apparent within the first few months of life. These abnormalities can include shortened limbs, carpus valgus (outward rotation of the forelimbs), hip dysplasia, and a shortened skull and neck. The stunted skeleton can cause gait abnormalities and lameness, and orthopaedic surgery may be required to correct the worst deformities.

Tilleggsinformasjon

Referanser

Pubmed ID: 34680883

Omia ID: 1485

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