What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo <i>KAT6A</i> Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis
Pathogenic variants in genes are involved in histone acetylation and deacetylation resulting in congenital anomalies, with most patients displaying a neurodevelopmental disorder and dysmorphism. Arboleda-Tham syndrome caused by pathogenic variants in KAT6A (Lysine Acetyltransferase 6A; OMIM 601408)...
Main Authors: | , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-01-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/14/1/165 |