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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


NAA10-related syndrome 

Yiyang Wu & Gholson J. Lyon


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   

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