Katerina Slaba Hana Noskova Petra Vesela Jana Tuckova Hana Jicinska Tomas Honzik Hana Hansikova Petra Kleiblova Petr Stourac Petr Jabandziev Ondrej Slaby Dagmar Prochazkova
10.3389/fgene.2020.561054
Front Genet
2020 Oct 7;11:561054.
pmm2-cdg novel splicing variant pericardial effusion phosphomannomutase 2 whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/33133147/
PMC7575812
33133147
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
2020