Associated Papers
Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report.
Özalp M et al.
Taiwanese Journal of Obstetrics & Gynecology, 2025
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Antenatal Phenotype of Desbuquois Dysplasia.
Biji IK et al.
Indian Journal of Pediatrics, 2023
Molecular autopsy by proxy in preconception counseling.
Ali Alghamdi M et al.
Clinical Genetics, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Mutation of CANT1 causes Desbuquois dysplasia.
Faden M et al.
American Journal of Medical Genetics. Part A, 2010
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