Cargando…
NAA10-related syndrome
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with different variants in both males and females. Al...
Autores principales: | Wu, Yiyang, Lyon, Gholson J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063861/ https://www.ncbi.nlm.nih.gov/pubmed/30054457 http://dx.doi.org/10.1038/s12276-018-0098-x |
Ejemplares similares
-
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
por: Lyon, Gholson J., et al.
Publicado: (2023) -
Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells
por: Belbachir, Nadjet, et al.
Publicado: (2023) -
Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway
por: Kweon, Hyae Yon, et al.
Publicado: (2021) -
N-α-acetyltransferase 10 (NAA10) in development: the role of NAA10
por: Lee, Mi-Ni, et al.
Publicado: (2018) -
Ocular Manifestations of the NAA10-Related Syndrome
por: Gupta, Angela S., et al.
Publicado: (2019)