Research interests

- Amsterdam UMC Expert Centre for Developmental Disorders (AECO) for Cornelia de Lange, Marshall-Smith, Malan, Menke-Hennekam, Pitt-Hopkins, Primrose, Rubinstein-Taybi and Wiedemann-Steiner syndrome

- Amsterdam UMC Expert centre for children with Marfan syndrome and related disorders



Pediatrics hereditary and congenital disorders

Research output

  1. Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion

    Research output: Contribution to journalComment/Letter to the editorAcademic

  2. Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

    Research output: Contribution to journalArticleAcademicpeer-review

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