Associated Papers
Desbuquois dysplasia and cardiovascular complications: a retrospective cohort study.
Öztürk M et al.
European Journal of Pediatrics, 2025
Extremely rare association: Desbuquois dysplasia type 1 with coronary-cameral fistula.
Öztürk M et al.
Cardiology in the Young, 2025
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
Kahraman AB et al.
American Journal of Medical Genetics. Part A, 2022
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
Thomas MM et al.
Molecular Syndromology, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.
Paganini C et al.
The Febs Journal, 2019
Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.
Inoue S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M et al.
Human Mutation, 2012
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
Identification of CANT1 mutations in Desbuquois dysplasia.
Huber C et al.
American Journal of Human Genetics, 2009
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