Associated Papers
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Acquired cystic disease associated renal cell carcinoma: A clinicopathologic and molecular study of 31 tumors.
Palathingal Bava E et al.
Human Pathology, 2024
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
Laccone F et al.
European Journal of Human Genetics : Ejhg, 2011
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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