Article
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.
Human genetics - 1 Nov 2021
Niskanen Julia E, Reunanen Vilma, Salonen Milla, Bannasch Danika, Lappalainen Anu K, Lohi Hannes, Hytönen Marjo K
Abstract excerpt
A frameshift deletion variant in the Wnt pathway gene dishevelled 2 (DVL2) is associated with a truncated, kinked tail ("screw tail") in English Bulldogs, French Bulldogs and Boston Terriers. These breeds are also characterized by distinctive morphological traits, including a wide head, flat face and short-limbed dwarfism, which are characteristic of Robinow syndrome in humans, caused by defects in genes such as...
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