Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

BACKGROUND: NAA10 is the catalytic subunit of the major N-terminal acetyltransferase complex NatA which acetylates almost half the human proteome. Over the past decade, many NAA10 missense variants have been reported as causative of genetic disease in humans. Individuals harboring NAA10 variants oft...

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Detalles Bibliográficos
Autores principales: Bader, Ingrid, McTiernan, Nina, Darbakk, Christine, Boltshauser, Eugen, Ree, Rasmus, Ebner, Sabine, Mayr, Johannes A., Arnesen, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374887/
https://www.ncbi.nlm.nih.gov/pubmed/32698785
http://dx.doi.org/10.1186/s12881-020-01091-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374887/
https://www.ncbi.nlm.nih.gov/pubmed/32698785
http://dx.doi.org/10.1186/s12881-020-01091-1

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