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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,
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