Detalhe da pesquisa
1.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clin Genet
; 104(3): 371-376, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191084
2.
A nonsense variant in the N-terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft.
Am J Med Genet A
; 191(9): 2402-2410, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387332
3.
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
Genet Med
; 23(11): 2213-2218, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230638
4.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun
; 15(1): 2269, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38480682