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

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