Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
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O. Slabý | P. Jabandžiev | P. Kleiblova | T. Honzík | H. Nosková | K. Slabá | P. Veselá | D. Prochazkova | P. Štourač | H. Hansíková | H. Jicinska | J. Tucková