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.
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
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
2018
NAA10-related syndrome
Yiyang Wu & Gholson J. Lyon