Associated Papers
Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention.
Makwana R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon GJ et al.
European Journal of Human Genetics : Ejhg, 2023
37130971 (PubMed )
Supplement: 41431_2023_1368_MOESM2_ESM.xlsx › NAA10
A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy.
Shishido A et al.
Human Genome Variation, 2020
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Støve SI et al.
European Journal of Human Genetics : Ejhg, 2018
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2015
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