Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
Thomas MM et al.
Molecular Syndromology, 2021
Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification.
Paganini C et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2019
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
Mutation of CANT1 causes Desbuquois dysplasia.
Faden M et al.
American Journal of Medical Genetics. Part A, 2010
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
Identification of CANT1 mutations in Desbuquois dysplasia.
Huber C et al.
American Journal of Human Genetics, 2009
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