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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.
Singh A et al.
European Journal of Medical Genetics, 2015
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