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Ehlers-Danlos syndrome type 1 H689

79,00 €

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Specifications

Breeds

All Breeds

Gene

COL5A1

Organ

Integumentary System

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Dominant

Chromosome

9

Also known as

cEDS

Year Published

2019

General information

Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. The variant analyzed in this specific test is for a form of EDS caused by a dominant mutation to the gene COL5A1.

Clinical features

Affected dogs present clinical symptoms within the first several months of life. Symptoms are primarily weak skin (prone to small cuts, breaks and swellings), skin hyperextensibility and joints with an extreme range of motion.

 

References

Pubmed ID: 31546637

Omia ID: 2165