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A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.

Jan 02, 2023

ABOUT THE CONTRIBUTORS

  • Hana Zunova

    Department of Biology and Medical Genetics, Second Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.

    Miroslav Stolfa

    Department of Biology and Medical Genetics, Second Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.

    Tereza Kunikova

    Department of Biology and Medical Genetics, Second Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.

    Drahuse Novotna

    Department of Biology and Medical Genetics, Second Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.

    Radka Valkovicova

    Department of Pediatric Neurology, Second Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.

    Katalin Štěrbová

    Department of Pediatric Neurology, Second Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.

    Marketa Vlckova

    Department of Biology and Medical Genetics, Second Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.

REFERENCES & ADDITIONAL READING

PubMed

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