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Spondylocostal Dysostosis (Miniature Schnauzer Type)
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,
