Associated Papers
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Antenatal Phenotype of Desbuquois Dysplasia.
Biji IK et al.
Indian Journal of Pediatrics, 2023
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism.
Meira JGC et al.
Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia, 2018
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T et al.
Journal of Medical Genetics, 2011
Identification of CANT1 mutations in Desbuquois dysplasia.
Huber C et al.
American Journal of Human Genetics, 2009
Select a paper to view details