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Congenital Eye Malformation (Golden Retriever)
Category:
Ophthalmologic - Associated with the eyes and associated structures
Gene:
SIX6, chr8
Variant Detected:
c.487C>T p.Gln163*
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 Dominant with Incomplete Penetrance
Research Citation(s):
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628151/
Genes (Basel). 2019 Jun; 10(6): 454.
Associated Breed(s):
Golden Retriever, Goldendoodle, Groodle,
