Associated Papers
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C et al.
Hgg Advances, 2022
35047859 (PubMed )
Supplement: mmc1.pdf
Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds.
Mansour TA et al.
Plos Genetics, 2018
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Bunn KJ et al.
American Journal of Human Genetics, 2015
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