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Dental-skeletal-retinal anomaly
Breed: Italian Corso dog
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
GTPs
General
Disease Name
Dental-skeletal-retinal anomaly
OMIA
2465
Gene Name
MIA3
Mutation
g.16920529_16920530del
Mutation 2
c.3822+3_3822+4del
Mutation 3
p.(V1238_K1274del
Test Type
Genetic Disease/Disorder
Details 2
Christen et al. (2021): "Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss."
Breed Specific Info
Researched Breeds
Italian Corso/Cane Corso
HSP Test-Specific Data
Genomia s.r.o
GTP
Breed
OMIA
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