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Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.

Anne GregorChristiane Zweier
Published in: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V (2024)
In this review we describe different model organisms and systems that are commonly used to study syndromic disorders. Different use cases in modeling diseases, underlying pathomechanisms and specific effects of certain variants are elucidated. We also highlight advantages and limitations of different systems. Models discussed include budding yeast, the nematode worm, the fruit fly, the frog, zebrafish, mice and human cell-based systems.
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