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  2. Kury-Isidor syndrome

Kury-Isidor syndrome

Definition:

Kury-Isidor syndrome (KURIS) is a syndromic neurodevelopmental disorder caused by rare germline missense BAP1 variants. Nuclear deubiquitinase BAP1 is a core component of multiprotein complexes that promote transcription by reversing the ubiquitination of histone 2A (H2A).

Biomedical Dictionary

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