Prague Med. Rep. 2020, 121, 153-162
https://doi.org/10.14712/23362936.2020.14
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene
Crossref Cited-by Linking
- Taner Hasan Emir, Uluda\u011f Alkaya Dilek, Kalyoncu Uçar Ay\u015fe, \u015eeker Ali, Centel Tuncay, Y\u0131ld\u0131r\u0131m Timur, Güne\u015f Nilay, Tüysüz Beyhan: Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients. Genes 2026, 17, 463. <https://doi.org/10.3390/genes17040463>
- Li Shan, Sheng Yueyang, Wang Xinyu, Wang Qianqian, Wang Ying, Zhang Yanzhuo, Wu Chengai, Jiang Xu: Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis. Orphanet J Rare Dis 2024, 19. <https://doi.org/10.1186/s13023-024-03228-4>
- Sun Huihui, Zhang Geng, Li Na, Bu Xiangfang: Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing. Front. Genet. 2024, 15. <https://doi.org/10.3389/fgene.2024.1399186>
- Jacob Prince, Bhavani Gandham Sri Lakshmi, Shah Hitesh, Galada Chelna, Nampoothiri Sheela, Kamath Nutan, Phadke Shubha R., Muranjan Mamta, Datar Chaitanya A., Shukla Anju, Girisha Katta M.: Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients. American J of Med Genetics Pt A 2022, 188, 751. <https://doi.org/10.1002/ajmg.a.62566>


