KAT6A syndrome: advances on the genetic bases and clinical picture of a rare disease

A research team has described five new cases of a rare disease known as KAT6A syndrome, of which there are only 80 dominant cases worldwide. This neurological and developmental disorder, caused by alterations in the lysine acetyltransferase 6A gene (KAT6A), involves intellectual disability, language impairment, low muscle tone, cardiovascular malformation and eye defects, among other symptoms.
Read More