Title : Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Pub. Date : 2020 Feb 10

PMID : 32041641






1 Functional Relationships(s)
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1 BACKGROUND: Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypotonia, and heart and eye malformations. tyrosyl-lysine lysine acetyltransferase 6A Homo sapiens