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  2. Li-Ghorbani-Weisz-Hubshman syndrome

Li-Ghorbani-Weisz-Hubshman syndrome

Definition:

Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is an intellectual disability syndrome caused by mutations in KAT8. Patients are with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. KAT8 encodes lysine acetyltransferase 8, that is critical for acetylation of histone H4 at lysine 16.

Biomedical Dictionary

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