Associated Papers
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function.
Wang HD et al.
Orphanet Journal of Rare Diseases, 2020
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M et al.
Human Mutation, 2012
Mutation of CANT1 causes Desbuquois dysplasia.
Faden M et al.
American Journal of Medical Genetics. Part A, 2010
Identification of CANT1 mutations in Desbuquois dysplasia.
Huber C et al.
American Journal of Human Genetics, 2009
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