Affected gene: FAM20C
Inheritance: Autosomal recessive
Mutation: CanFam3.1 6g.16452327G>A c.899C>T p.(A300V)
OMIA link: 2015-9615

Appropriate breeds for testing: Border Collie

References:
Hytonen MK, Arumilli M, Lappalainen AK et al. (2016). Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS genetics, 12(5), e1006037.
Hytonen MK, Lohi H. (2016). Canine models of rare human disorders. Rare Diseases, 4(1), e1006037. [pubmed/27803843]