Associated Papers
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Desbuquois dysplasia Kim variant: a rare case report syndrome.
Agrawal N et al.
Clinical Dysmorphology, 2021
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.
Singh A et al.
European Journal of Medical Genetics, 2015
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M et al.
Human Mutation, 2012
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