Review: Clinical Variability and Genetic Heterogeneity in Multiple Epiphyseal Dysplasia
Author:
Publisher
Informa UK Limited
Subject
Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.1080/pdp.22.1.53.75
Cited by 18 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children;International Journal of Surgery Case Reports;2023-05
2. Differential diagnosis of myopathy and multiple epiphysal dysplasia caused by mutations in the <i>COMP</i> gene in children;Neuromuscular Diseases;2022-06-09
3. A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance;International Journal of Translational Medicine;2022-06-05
4. Multiple occurrence of premature polyarticular osteoarthritis in an early medieval Bohemian cemetery (Prague, Czech Republic);International Journal of Paleopathology;2020-09
5. XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease;PLOS Genetics;2019-07-01
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