Associated Papers
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
Troisi S et al.
European Journal of Medical Genetics, 2022
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.
Marji FP et al.
Journal of Pediatric Genetics, 2021
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Urreizti R et al.
Orphanet Journal of Rare Diseases, 2020
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