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-Lababidi1, Marie Zikánová1, Alice Baxová2, Lenka Nosková1, Alena Leiská3, Lukáš Lambert3, Tomáš Honzík1, 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

References

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