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HDAC8

For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndroom.

Changes to the gene HDAC8 were first reported in individuals with classic and non-classic CdLS. HDAC8 is also on the X chromosome but it can be inactivated. It is important to note that changes on HDAC8 may also result in characteristics that do not resemble CdLS. Currently, variants in HDAC8 have been found in about 5% of individuals with CdLS.

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