Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

by Nabil El-Lababidi, Marie Zikánová, Alice Baxová, Lenka Nosková, Alena Leiská, Lukáš Lambert, Tomáš Honzík, Jiří Zeman
Published 2020-10-01

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

by Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch
Published 2020-07-01