Published Papers
NAA10 syndromes are so incredibly rare that currently there are only a limited number of published reports that document it. The below publications open as PDF documents into a new window.
Nov 2020
NAA10 p.(D10G) and NAA10 p.(L11R) Variants Hamper Formation of the NatA N-Terminal Acetyltransferase Complex
McTiernanet al
May 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Cheng et al
April 2019
Ocular Manifestations of the NAA10-Related Syndrome
Angela S. Gupta et al
June 2018
A case of de novo NAA10 mutation presenting with eyelid myoclonias
Valentine et al
2018
NAA10-related syndrome
Yiyang Wu & Gholson J. Lyon
2017
Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome
Sidhu et al
April 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
Saunier et al
Nov 2015
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment
Casey et al
Jan 2015
The biological functions of NAA10 – from amino-terminal acetylation to human disease
Max Doerfel & Gholson J. Lyon
Aug 2014
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
Bernt Popp et al
Nov 2013
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
Taraneh Esmailpour et al