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
Nabil El-Lababidi
1, Marie Zikánová
1, Alice Baxová
2, Lenka Nosková
1, Alena Leiská
3, Lukáš Lambert
3, Tomáš Honzík
1,
Jiří Zeman1
1Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
2Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
3Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
Received April 13, 2020
Accepted September 14, 2020
Crossref Cited-by Linking
- 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>