Associated Papers
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
D'Onofrio G et al.
Clinical Genetics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
Morrison J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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