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A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

Jan 30, 2023

ABOUT THE EXPERTS

  • Nicoletta Zanotta

    Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy. Electronic address: nicoletta.zanotta@lanostrafamiglia.it.

    Elena Panzeri

    Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.

    Sara Minghetti

    Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.

    Andrea Citterio

    Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.

    Roberto Giorda

    Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.

    Susan Marelli

    Medical Genetic Service, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.

    Maria Teresa Bassi

    Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.

    Claudio Zucca

    Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.

REFERENCES & ADDITIONAL READING

PubMed

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