Clinical and genetic heterogeneity in Desbuquois dysplasia
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.30042/fullpdf
Reference9 articles.
1. Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3
2. Desbuquois dysplasia, a reevaluation with abnormal and ?normal? hands: Radiographic manifestations
3. Desbuquois syndrome
4. Human Genome Working Draft. http://genome.ucsc.edu/.
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1. Cant1 Affects Cartilage Proteoglycan Properties: Aggrecan and Decorin Characterization in a Mouse Model of Desbuquois Dysplasia Type 1;Biomolecules;2024-08-26
2. First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations;Molecular Syndromology;2021
3. Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals;American Journal of Medical Genetics Part A;2020-06-27
4. CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage;FEBS Open Bio;2020-04-23
5. Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia;Spine Deformity;2020-01-16
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