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Spondylocostal Dysostosis (Miniature Schnauzer Type)

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Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

Hes family bHLH transcription factor 7 (HES7) Chromosome 5

Variant Detected:

Nucleotide Deletion c.126delG p.Thr43ProfsTer24

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Willet CE, et al. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. (2015) PloS One 10(2): e0117055

Associated Breed(s):

Miniature Schnauzer, Schnoodle,

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