Mónica Centeno Pla

Investigador pre-doc

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  • New advances in Schaaf-Yang syndrome research

    A team led by researchers from the Institut de Recerca Sant Joan de Déu · IBUB discover that mutations in the MAGEL2 gene generate non-functional truncated proteins that tend to accumulate in the cell nucleus.

  • First clinical guideline on Schaaf-Yang syndrome for professionals and families

    Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.

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