Associated Papers
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.
Daşar T et al.
American Journal of Medical Genetics. Part A, 2025
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Radiographic findings of Desbuquois dysplasia.
Özdemir M et al.
Bjr Case Reports, 2021
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T et al.
Journal of Medical Genetics, 2011
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